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Sheldon-Hall syndrome

1 OMIM reference -
4 associated genes
21 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Freeman-Sheldon syndrome

2 OMIM references -
1 associated gene
33 signs/symptoms

Sheldon-Hall syndrome

Freeman-Sheldon syndrome

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


COMMON GENES	MYH3

Citations in the biomedical literature:

Sheldon-Hall syndrome		Freeman-Sheldon syndrome
	Synonym(s): - Distal Arthrogryposis type 2B - Freeman-Sheldon syndrome variant		Synonym(s): - Craniocarpotarsal dysplasia - Craniocarpotarsal dystrophy - Distal arthrogryposis type 2A - Whistling face 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C535483


COMMON SIGNS	- Autosomal dominant inheritance - Long / large / bulbous nose - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Short stature / dwarfism / nanism - Ulnar deviation of fingers

Sheldon-Hall syndrome		Freeman-Sheldon syndrome
	Very frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - 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 - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Prominent / bat ears - Round ear - Short neck - Tarsal anomaly / fusion / synostosis - Vertebral segmentation anomaly / hemivertebrae - Wrist / carpal anomalies		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Broad nasal root - Broad nose / nasal bridge - Camptodactyly of fingers - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Failure to thrive / difficulties for feeding in infancy / growth delay - Grooved / dimple chin - Hypertelorism - Limited opening of the mouth - Microstomia / little mouth - Talipes-varus / metatarsal varus - Thin / hypoplastic ala nasi Frequent - Deepset eyes / enophthalmos - Fetal immobility / abnormal fetal movements - Hearing loss / hypoacusia / deafness - Long philtrum - Malignant hyperthermia - Ptosis - Small / triangular nares / nostrils - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Absence of palmar creases - Autosomal recessive inheritance - Herniae - Oligoamnios - Polyhydramnios