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Silver Russell syndrome

Russell-Silver syndrome Genetic and Rare Diseases

Russell-Silver syndrome (RSS) is a rare condition associated with poor growth both before and after birth. [1] Signs and symptoms vary and may include low birth weight, short stature, characteristic facial features, large head in relation to body size, body asymmetry, and feeding difficulties. Other features may include poor appetite, clinodactyly. Silver-Russell syndrome (SRS), also called Silver-Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell-Silver syndrome (RSS), and Silver-Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism Summary. Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive) Clinical characteristics: Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference ≥1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding.

Russell-Silver syndrome

Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference ≥1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry Définition. Le syndrome de Silver-Russell associe un retard de croissance débutant pendant la période anténatale à un aspect caractéristique du visage et une asymétrie des membres

Silver-Russells syndrom kännetecknas av långsam tillväxt. Barn med syndromet är korta vid födseln och har låg födelsevikt. Huvudomfånget är normalt men huvudet brukar uppfattas som stort i förhållande till kroppen. Den ena kroppshalvan är ofta mindre än den andra Russell-Silver syndrome (簡稱RSS)又稱為Silver-Russell syndrome或Silver syndrome。. RSS是一種罕見的先天疾病,主要特徵為身材矮小,且通常在身體二側呈現左右不對稱。. 致病原因並不單純,病因學並不明瞭,基本上認為與遺傳有關,但是致病基因目前並不清楚。. 在病因學上. Silver-Russell syndrome) - rzadki zespół wad wrodzonych. Większość przypadków jest sporadyczna (nierodzinna). Opisywano jednorodzicielską matczyną disomię. Częstość zespołu szacuje się na 1:50 000-100 000 żywych urodzeń Russell-Silver syndrome is a disorder present at birth that involves poor growth, low birth weight, short height, and differences in the size of the two sides of the body. In 1953, Silver et al reported two unrelated children with congenital hemihypertrophy, low birth weight, and short stature

Silver-Russell syndrome - Wikipedi

El síndrome de Silver-Russell es un trastorno genético que generalmente resulta de la regulación anormal de ciertos genes que controlan el crecimiento. Mas o menos 60% de los casos del síndrome son causados por dos tipos de anomalías, que envuelven el cromosoma 11 y el cromosoma 7 Russell-Silver syndrome is a type of growth disorder usually accompanied by distinctive facial features, and often by asymmetric limbs. Babies with this condition typically have difficulty feeding and growing

Een kind met Silver-Russell syndroom groeit minder snel dan normaal. De oorzaak is een afwijking in het DNA. Welke klachten iemand heeft en hoe ernstig deze klachten zijn verschilt van persoon tot persoon. Meestal groeien kinderen met Silver-Russell syndroom al minder goed tijdens de zwangerschap Silver-Russell syndrome-1 (SRS1) is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations Silver-Russell症候群 (SRS)は重度の子宮内発育遅 延、出生後の重度の成長障害、三角の顔や広い額などのような頭蓋および顔面特徴、身体非対称とほかの様々な小奇形によって特徴づけられる臨床的に多彩な症 状を呈する疾患である。. 表現型は、幼児期から青年期までの間、顔面特徴と非対称が微妙になるように、通常、年齢によって変化するのも特徴である。. 遠位.

The Russell Silver Syndrome Podcast is the brainchild of Kirkwall resident, Kim Taylor. The podcast focuses on one of the more rare types of Dwarfism, medically known as Russell Silver Syndrome or Silver Russell Syndrome - or simply known as RSS. Kim runs an international online support group for people. Read more ラッセル・シルバー症候群. (Russell-Silver Syndrome) [Synonym: Silver-Russell Syndrome] Gene Reviews著者: Howard M Saal, MD, Director of Clinical Genetics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Professor of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, gro.cmhcc@mhlaas A síndrome de Silver-Russell (SSR), também chamada de nanismo de Silver-Russell, ou ainda Síndrome de Russell-Silver, é um distúrbio de crescimento congênito raro. Nos Estados Unidos, é geralmente referida como Russell-Silver syndrome (RSS). É um dos 200 tipos de nanismo e um dos cinco tipos de nanismo primordial Silver Russell syndroom is een aandoening waarbij kinderen een ontwikkelingsachterstand hebben in combinatie met een kleine lichaamslengte en een typische driehoekige vorm van het gezicht. Hoe wordt het Silver Russell syndroom ook wel genoemd? Silver en Russell zijn twee artsen die dit syndroom beschreven hebben La sindrome di Silver Russell è uno spettro di anomalie caratterizzato da rallentamento di crescita intrauterino e post-natale, facies tipica e in alcuni casi da asimmetria corporea. In particolare è descritta macrocrania relativa associata a: volto triangolare, fronte larga e prominente, labbra sottili, rivolte verso il basso, mento appuntito

The Silver-Russell syndrome in the patient T

Russell-Silver Syndrome - NORD (National Organization for

  1. Russell Silver Syndrome explained by the moms of 2 affected children. Presented by The MAGIC Foundation for Children's Growth
  2. ant or recessive trait. The outcome of inheriting Russell Silver Syndrome could be a carrier of the genetic abnormality, which increase the chance of Russell Silver Syndrome development in future generation of that particular family
  3. Silver-Russell syndrome (SRS) is a congenital disorder mainly characterized by pre- and postnatal growth restriction. The children are relatively macrocephalic and their face is triangular-shaped with a broad forehead and a pointed, small chin. In many cases, asymmetry of limbs and body and clinodactyly V is present
  4. Silver Russell syndrome is a rare congenital developmental disorder that is clinically and genetically heterogeneous. Diagnosis is based on variable presentation of classical characteristics including pre- and postnatal growth failure, relative macrocephaly, frontal bossing in young age, triangular face, hemihypotrophy and fifth finger.

Russell-Silver syndrome: MedlinePlus Genetic

  1. Investigating Behaviour in Silver-Russell Syndrome: Research Summary. by Chloe Lane, Louisa Robinson, Megan Freeth. For the past year, we have been conducting a study to investigate behavioural characteristics observed in SRS. The study involved a play session/semi-structured interview which was used to observe how children play with different.
  2. ished subcutaneous fat and may experience hypoglycemia during infancy
  3. Syndrome de Silver-Russell. Le syndrome de Silver-Russell (SSR) est caractérisé par un retard de croissance intra-utérin (RCIU) défini par un poids et/ou une taille de naissance inférieur à - 2 SDS, un retard de croissance post-natal avec périmètre crânien (PC) conservé, une asymétrie corporelle (hypotrophie hémi corporelle) fréquente et une dysmorphie du visage
  4. 1 Definition. Das Silver-Russell-Syndrom ist ein Fehlbildungssyndrom, das durch einen intrauterinen Kleinwuchs gekennzeichnet ist. Die Erkrankung kommt extrem selten vor und zählt weltweit gerade einmal etwas mehr als 400 gemeldete Fälle. Der Minderwuchs beginnt bereits im Mutterleib während der fetalen Entwicklung.Bei der Geburt fällt ein deutlicher Wachstumsrückstand auf
  5. ujícím čelem a dalšími anomáliemi.Jedná se o epigenetické onemocnění, které má různorodý genetický a.
  6. Le syndrome de Russell-Silver (RSS), parfois appelé syndrome de Silver-Russell (SRS), est une maladie congénitale. Elle se caractérise par un retard de croissance et une asymétrie des membres ou du visage. Les symptômes s'étendent sur un large spectre clinique allant de graves à si légers qu'ils ne sont pas détectés
  7. AFIF SSR PAG - Association Française des Familles touchées par le syndrome de Silver Russell (SSR) et des personnes nées Petites pour l'Age Gestationnel (PAG) et leurs ami

Silver-Russell综合征临床表现. 1. 出生前后生长迟滞. 出生体重低,生长发育缓慢,身材矮小。. 尖下颌导致三角形脸、相对头围偏大及前额宽阔突出。. 齿列不齐、耳位低,躯体偏身不对称,如两侧肢体长度不一致、小指侧弯畸形等。. 新生儿期可出现低血糖、尿道. El síndrome de Russell-Silver (RSS), a veces llamado síndrome de Russell Plata (SRS), es una condición congénita. Se caracteriza por retraso en el crecimiento y la integridad física o asimetría facial. Los síntomas varían en un amplio espectro clínico de grave a tan leves que pasan desapercibidos. El trastorno es causado por defectos.

Silver-Russell Syndrome - PubMe

Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by pre- and postnatal growth failure, relative macrocephaly, hemihypotrophy and fifth-finger clinodactyly. 1. Silver-Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due.

Living with Russell Silver Syndrome – Child Growth

Russell-Silver Syndrome (RSS) is a prenatal and post-birth growth disorder characterized by stunted appearance, a disproportionately large head, triangular face and abnormalities involving various organ systems in the body The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although the range of phenotypic variance is unknown. Fifty seven subjects varying in age from 0.84 to 35.01 years, in whom the. Silver Russell Syndrome. What is Silver Russell Syndrome. SRS is a very rare undergrowth condition affecting around 1 in 15,000 births each year and is characterised by slow growth during pregnancy and after birth. Following birth, babies with SRS will fail to gain wait at the normal rate (failure to thrive) and are likely to have a final. Das Silver-Russell-Syndrom (SRS) ist eine Form des bereits intrauterinen Kleinwuchses.Die Krankheitshäufigkeit wird weltweit auf ungefähr 1-3 von 100.000 Geburten geschätzt und zählt damit zu den seltenen Krankheiten. Intrauteriner Kleinwuchs ist die Sammelbezeichnung für solche Entwicklungsbesonderheiten, die bei Kindern bereits im Mutterleib (= intrauterin) entstehen und insbesondere.

The growth chart proved to be one of the single most important factors for determining the health of my son. It has become an essential tool for understanding how to manage my Russell-Silver Syndrome child. Weight - Not a Perfect Science for RSS Kids. Weight gain is an incredibly sensitive subject for RSS children Le syndrome de Silver Russell est une maladie rare. Son diagnostic est fondé sur la présence d'au moins 4 des 6 critères du score clinique de Netchine et Harbison (NH-CSS). Ces signes sont plus francs dans la petite enfance, ce qui rend le diagnostic plus difficile à faire à l'âge adulte

Distraction osteogenesis in Silver Russell syndrome to

The Silver-Russell syndrome in the patient T. I., showing the triangular facies characteristic with relative macrocephaly, frontal bossing, mandibular hypoplasia and small chin (Photograph by B. Fougères). On physical examination, the patient showed a general good condition, a weight of 18.5 kg, HC o Silver-Russell syndrome is a growth disorder characterised by slow growth before and after birth. Babies with Silver-Russell syndrome have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). As adults people with Silver-Russell syndrome will have short stature (height)

SSN. La sindrome di Russell-Silver o sindrome di Silver-Russell è un raro disturbo della crescita. È uno tra gli oltre 200 tipi di nanismo e uno dei cinque tipi di nanismo primordiale ed è una delle poche forme che è considerata curabile in alcuni casi Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, characterized by severe pre/postnatal growth retardation, characteristic facies, skeletal asymmetry, and other congenital anomalies. The incidence is estimated as 1:50,000-1:100,000 live births A noteable imprinting disorder is Silver-Russell syndrome (SRS), a congenital disease characterised by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. However, the clinical spectrum is broad and the clinical diagnosis often subjective What is Russell-Silver Syndrome. A form of dwarfism. Characterised by slow growth before and after birth. Average height of an adult is. Male 4 feet, 11 inches. Female 4 feet 7 inches. incidence is estimated to be 1 in 30,000 to 1 in 100,000

Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. As many of these features are non-specific, clinical diagnosis of SRS remains difficult. Hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 and maternal uniparental disomy (mUPD) for. 618907 - SILVER-RUSSELL SYNDROME 4; SRS4 By whole-exome sequencing in a female patient with Silver-Russell syndrome, who had normal methylation on chromosomes 7, 11, and 14, and in whom maternal uniparental disomies and chromosomal rearrangements had been excluded, Abi Habib et al. (2018) identified heterozygosity for a 1-bp deletion in the PLAG1 gene (603026.0001) What is Russell-Silver syndrome? Russell-Silver syndrome (or Silver-Russell syndrome) is a rare birth defect which causes decreased growth of the fetus (intrauterine growth restriction - IUGR) and infant/child (postnatal growth deficiency), leading to short stature. In addition, distinct facial features (triangular-shaped face) are present 罗素银综合征(SRS ,Silver-Russell Syndrome/RSS Russell- SilverSyndrome )又称原始侏儒症,发病率只有十万分之一,是一个临床和遗传异质性综合征,它的特点是严重的子宫内和出生后生长发育迟缓,患儿常常喂养困难,同时具有身材矮小、脸小呈三角形、低位耳、第五手指弯曲等特点

Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism. Epidemiology Associations single umbilical artery Clinical presentation intrauterine growth restriction: tends to give an asymmetrical IUGR postnata.. Fig1 : The patient with Silver Russell syndrome: growth retardation, craniofacial abnormalities, preservation of occipito-frontal head circumference, triangular face and body asymmetry. Differential diagnosis: It is a clinical overlap with other syndromes associated with intrauterine growth retardation and craniofacial abnormalities (Table 1) Russell-Silver syndrome or Silver-Russell syndrome, is a growth disorder characterized by slow growth before and after birth. Babies with Russell-Silver syndrome have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive) El síndrome de Russell-Silver es una enfermedad hereditaria y congénita, presente desde el momento del nacimiento.Se considera una enfermedad rara por su escasa frecuencia, pues existe un caso por cada 100.000 niños nacidos. Afecta por igual a los dos sexos. La primera descripción fue realizada por Henry Silver en 1953, un año después Alexander Rusell publicó una serie de 5 casos, por. Silver-Russell Syndrome Diagnosis and Management of Silver-Russell Syndrome: 1st International Consensus Statement (Nat. Rev. Endocrinology 2017) The first international consensus statement on diagnosis and management of Silver-Russell syndrome presented by 41 task force members from 16 countries

Silver-Russell Syndrome - GeneReviews® - NCBI Bookshel

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by growth failure and dysmorphic features [].Recently, the Netchine-Harbison clinical scoring system (NH-CSS) has been adopted as the clinical diagnostic criteria of SRS [].NH-CSS has the following six key features: (1) small for gestational age (SGA), (2) postnatal growth failure, (3) relative. • Russell-Silver syndrome (RSS) is a sporadic form of prenatal onset dwarfism with typical facial features, variable asymmetry, and linear growth 3 to 4 SDs below the mean Russell-Silver syndrome (RSS) is a disorder present at birth involving poor growth. One side of the body may also appear to be larger than the other Silver-Russell syndrome (, also known as Russell-Silver syndrome) is characterized by severe intrauterine growth restriction and postnatal . ›. Diagnostic approach to children and adolescents with short stature. View in Chinese. learning skills are common in Turner syndrome. Developmental delay is common in Noonan or Russell-Silver. Test Information. RSS Methylation-Specific MLPA is a molecular test used to detect copy number variants or methylation abnormalities associated with Russell-Silver syndrome (RSS). Turnaround Time. 3 weeks. CPT Code (s) 81401. Cost. $600

Silver-Russell Syndrome; Silver Russell Dwarfism; Silver

Orphanet: Syndrome de Silver Russel

Silver-Russell syndrome (SRS) is a genetically heterogeneous syndrome characterized by low birth weight, severe short stature, and variable dysmorphic features. GH treatment is a registered growth-promoting therapy for short children born small for gestational age, including SRS, but there are limited data on the GH response in SRS children and. H19 is also known as BWS because aberrant H19 expression can be involved in Beckwith-Wiedemann Syndrome (BWS), as well as Silver-Russell syndrome. H19 (gene) - Wikipedia Cobl seems to play a role in the skeletal asymmetry of the Silver-Russel syndrome; the disease is caused by the duplication of the p11.2-p13 segment of the chromosome 7 Russell-Silver Syndrome. 345 likes. Silver-Russell dwarfism, also called Silver-Russell syndrome (SRS) or Russell-Silver syndrome (RSS) is a growth disorder occurring in approximately 1/50,000 to..

Silver-Russells syndrom - Socialstyrelse

Russel-Silver syndrome is a pattern of malformations whose most characteristic features are intrauterine and postnatal growth retardation, a characteristic facial appearance and limb asymmetry. We report a 9-month-old male born at 37 weeks' gestation Russell-Silver syndrome (RSS) is a disorder present at birth involving poor growth. One side of the body may also appear to be larger than the other. Causes. One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11

What is Silver-Russell Syndrome (SRS)? - YouTube

罕見疾病一點通-疾病資料

Overview. Russell-Silver syndrome (RSS) is a rare condition associated with poor growth both before and after birth.[12199] Signs and symptoms vary and may include low birth weight, short stature, characteristic facial features, large head in relation to body size, body asymmetry, and feeding difficulties. Other features may include poor appetite, clinodactyly (curved finger), digestive system. Silver Russell Syndrome (SRS) (MIM 180860), occurring in ~1/100'000 individuals, is characterised by severe intrauterine and postnatal growth retardation. The growth failure in SRS is frequently associated with failure to thrive and very low body mass index. Craniofacial symptoms include a characteristic small triangular face with and Silver-Russell syndrome in Europe. SRS is a rare disorder characterised by intrauterine growth retardation (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of th

Zespół Silvera-Russella - Wikipedia, wolna encyklopedi

The Russell-Silver Syndrome (RSS) is a form of dwarfism characterized by intrauterine growth retardation with subse-quent severe postnatal growth impairment (ie low-birth-weight dwarfism). The characteristic features have been classified as universal, common and uncommon (1). Univer Silver-Russell Syndrome (SRS) or Russell-Silver Syndrome (RSS) as it is sometimes called, is a rare genetic growth disorder. Children are generally born smaller than expected with distinct facial features. Sometimes different parts of the body will grow at different rates. Children with SRS will not catch-up to normal height in the first 2 years of life, and will need treatment early on

Silver-Russell Syndrome: A Case Repor

The main feature of Russell-Silver syndrome (RSS) is low birth weight followed by continued growth delays after birth. Individuals with RSS typically have proportionately short stature and normal head circumference. Certain characteristic facial features may also be present (triangular face, down-turned angles of the mouth, prominent forehead. Background Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 and 5%-10% have maternal uniparental disomy of chromosome 7. Most published research focuses on the childhood phenotype Silver-Russell syndrome (SRS) is a rare disorder characterised by prenatal and postnatal growth deficiency, a relatively large head size with triangular face, a prominent forehead, body asymmetry, feeding difficulties, clinodactyly and other features Russell Silver Syndrome is a form of primordial dwarfism. Disclaimer. The views on this website are that of the individual and do represent the whole community. We use photos, sometimes from commercial sites to enrich this site's experience. We give full credit to the site that a photo has come from and will remove it if requested

Silver-Russell Syndrome: Background, Pathophysiology

Russell Silver syndrome (RSS) is an extremely rare congenital condition characterized by stunted growth and limb or facial asymmetry. It is so rare — occurring in only 1 in 100,000 people globally — that some physicians may not be familiar enough to diagnose it immediately Objectives Silver-Russell syndrome (SRS) is a rare genetic disorder which is typically characterized by prenatal and postnatal growth failure and asymmetry in the size of the two halves or other parts of the body. Herein, we report accurate diagnosis and management of a patient with SRS. Case Our patient was a 9-year-old boy with short stature and dysmorphic facial profile Russell-Silver syndrome is a disorder present at birth that involves poor growth, low birth weight, short height, and differences in the size of the two sides of the body. In 1953, Silver et al reported two unrelated children with congenital hemihypertrophy, low birth weight, and short stature. In 1954, Russell described five unrelated children. In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively young imprinting disorder. This congenital disease is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry, and further less constant characteristic features

Syndrome de Silver-Russell — Wikipédi

Russell-Silver syndrome (RSS) is a rare genetic condition with an incidence of approximately 1 in 100,000. RSS is characterized by pre- and postnatal growth retardation with normal head circumference, characteristic facies, fifth finger clinodactyly, and asymmetry of the face, body, and/or limbs. Less commonly observed clinical features include. Russell-Silver syndrome (RSS) is a disorder of growth characterized by intrauterine growth retardation with postnatal growth deficiency. Many patients have diminished subcutaneous fat and may experience hypoglycemia during infancy. Short stature typically presents between 2 and 10 years and is proportional. Bone age may be delayed There has been a recent report of five children with the Russell-Silver syndrome. It was suggested that the clinical features were well-established, and the only laboratory investigation necessary was a fasting blood glucose to exclude hypoglycemia. This study is a review of the status of the genitourinary system in six patients with the Russell-Silver syndrome

The centromeric 11p15 imprinting centre is also involved

Russell-Silver syndrome (RSS) is a form of dwarfism characterized by intrauterine growth retardation with subsequent severe postnatal growth impairment, dysmorphic facial features including mandibular and facial hypoplasia, limb asymmetry, and a constellation of endocrine abnormalities including hypoglycemia and various patterns of hypogonadism. Silver-Russell syndrome (SRS) or Russell-Silver syndrome (RSS) is a rare genetic disorder that is presented in children with a small triangular face, low birth weight, slow growth (dwarfism), and limb asymmetry. It was originally described in 1953 by Silver and colleagues and later by Russell in 1954. Genomic aberration in maternal genes has been identified as one of the causes Russell-Silver syndrome (RSS) is characterized by intrauterine growth retardation accompanied by postnatal growth deficiency. The birth weight of affected individuals is typically two or more SD below the mean, and postnatal growth two or more SD below the mean for length or height. Affected individuals typically have proportionately short. Russell-Silver syndrome is a genetic disorder characterized by intrauterine and/or postnatal growth restriction and typical facies. The clinical feature is various due to heterogeneous genetic characters. Their common findings are short stature without catch-up growth, normal head size for age, a distinctive triangular face with prominent forehead and a pointed chin, low set ears and.