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Digitotalar dysmorphism
3 OMIM references -
5 associated genes
55 connected diseases
10 signs/symptoms
Disease Type of connection
Sheldon-Hall syndrome
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Typical nemaline myopathy
Cap myopathy
Freeman-Sheldon syndrome
Lethal congenital contracture syndrome type 3
Trismus - pseudocamptodactyly
Familial isolated dilated cardiomyopathy
Amyotrophic lateral sclerosis
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Catecholaminergic polymorphic ventricular tachycardia
Intermediate nemaline myopathy
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Inflammatory myofibroblastic tumor
Left ventricular noncompaction
Reducing body myopathy
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Amish nemaline myopathy
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Cowden syndrome
Proteus syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2C
Boomerang dysplasia
Chronic granulomatous disease
Chronic mucocutaneous candidiasis
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Spondylocarpotarsal synostosis
Young adult-onset Parkinsonism
Congenital myopathy with excess of thin filaments
Severe congenital nemaline myopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Extraskeletal myxoid chondrosarcoma
Precursor T-cell acute lymphoblastic leukemia
Translocation renal cell carcinoma
Synonym(s):
- DA1
- DA1A
- Distal arthrogryposis type 1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
3 OMIM references -
No MeSH references
Very frequent
- Autosomal dominant inheritance
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers

Frequent
- Camptodactyly of fingers
- Restricted joint mobility / joint stiffness / ankylosis
- Talipes-varus / metatarsal varus
- Ulnar deviation of fingers

Occasional
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Microstomia / little mouth
- Pes talus