ODCs

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1 OMIM reference -
4 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Sheldon-Hall syndrome

Autosomal dominant Charcot-Marie-Tooth disease type 2O


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TPM2	(0.49)	DYNC1H1

Citations in the biomedical literature:

Sheldon-Hall syndrome		Autosomal dominant Charcot-Marie-Tooth disease type 2O
	Synonym(s): - Distal Arthrogryposis type 2B - Freeman-Sheldon syndrome variant		Synonym(s): - CMT2O

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Sheldon-Hall syndrome
	Very frequent - Autosomal dominant inheritance - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - 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 - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Long / large / bulbous nose - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Prominent / bat ears - Round ear - Short neck - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis - Ulnar deviation of fingers - Vertebral segmentation anomaly / hemivertebrae - Wrist / carpal anomalies
Autosomal dominant Charcot-Marie-Tooth disease type 2O
(no data available)