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Digitotalar dysmorphism

3 OMIM references -
5 associated genes
10 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Freeman-Sheldon syndrome

2 OMIM references -
1 associated gene
33 signs/symptoms

Digitotalar dysmorphism

Freeman-Sheldon syndrome

MYBPC1	(UniProt - OMIM)		MYH3	(UniProt - OMIM)
MYH3	(UniProt - OMIM)
TNNI2	(UniProt - OMIM)
TNNT3	(UniProt - OMIM)
TPM2	(UniProt - OMIM)


COMMON GENES	MYH3

Citations in the biomedical literature:

Digitotalar dysmorphism		Freeman-Sheldon syndrome
	Synonym(s): - DA1 - DA1A - Distal arthrogryposis type 1		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: 1-5 / 10 000 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: 3 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C535483


COMMON SIGNS	- Autosomal dominant inheritance - Camptodactyly of fingers - Microstomia / little mouth - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus - Ulnar deviation of fingers

Digitotalar dysmorphism		Freeman-Sheldon syndrome
	Very frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Clinodactyly of fingers 1,2,3,4 / overlapping fingers Occasional - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Pes talus		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Broad nasal root - Broad nose / nasal bridge - 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 - Long / large / bulbous nose - Scoliosis - Thin / hypoplastic ala nasi Frequent - Deepset eyes / enophthalmos - Fetal immobility / abnormal fetal movements - Hearing loss / hypoacusia / deafness - Long philtrum - Malignant hyperthermia - Ptosis - Short stature / dwarfism / nanism - 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