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  3. SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES; SAMS

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities; Sams

Description

Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) is an autosomal recessive multiple congenital anomaly syndrome with features of a first and second branchial arch syndrome. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Additional features include rhizomelic skeletal anomalies as well as abnormalities of the shoulder and pelvic joints. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes (summary by Parry et al., 2013).

Genes related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities; Sams

  • GSC

Clinical Features

Top most frequent phenotypes and symptoms related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities; Sams

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Downslanted palpebral fissures
  • Anteverted nares
And another 27 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Not enough data available about incidence and published cases.


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Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities; Sams Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

FBN1, FGFR3, PRKAR1A, WDR35, ADAMTSL2, IFT140, IFT43, IFT122, WNT5A, ROR2, PDE4D, ZSWIM6, GPC6, TRPS1, GDF5, DDR2, NPR2, IHH, GSC
Specificity
6 %
Genes
100 %
GSC.

By Fulgent Genetics Fulgent Genetics in United States.

GSC
Specificity
100 %
Genes
100 %

Alternate names

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities; Sams Is also known as ;sams syndrome.


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