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Sheldon-Hall syndrome

1 OMIM reference -
4 associated genes
21 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

Trismus - pseudocamptodactyly

1 OMIM reference -
2 associated genes
8 signs/symptoms

Sheldon-Hall syndrome

Trismus - pseudocamptodactyly

MYH3	(UniProt - OMIM)		MYH8	(UniProt - OMIM)
TNNI2	(UniProt - OMIM)		TPM2	(UniProt - OMIM)
TNNT3	(UniProt - OMIM)
TPM2	(UniProt - OMIM)


COMMON GENES	TPM2

Citations in the biomedical literature:

Sheldon-Hall syndrome		Trismus - pseudocamptodactyly
	Synonym(s): - Distal Arthrogryposis type 2B - Freeman-Sheldon syndrome variant		Synonym(s): - Distal arthrogryposis type 7 - Dutch-Kentucky syndrome - Hecht syndrome - Hecht-Beals syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism

Sheldon-Hall syndrome		Trismus - pseudocamptodactyly
	Very frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Scoliosis - Simian crease / transverse / unique palmar crease - Webbed neck / pterygium colli Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - High vaulted / narrow palate - Long / large / bulbous nose - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Prominent / bat ears - Round ear - Short neck - Tarsal anomaly / fusion / synostosis - Ulnar deviation of fingers - Vertebral segmentation anomaly / hemivertebrae - Wrist / carpal anomalies		Very frequent - Muscle anomalies - Symphalangy of fingers Occasional - Prognathism / prognathia - Ptosis