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Sheldon-Hall syndrome
1 OMIM reference -
4 associated genes
34 connected diseases
21 signs/symptoms
Disease Type of connection
Digitotalar dysmorphism
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Typical nemaline myopathy
Cap myopathy
Freeman-Sheldon syndrome
Trismus - pseudocamptodactyly
Amyotrophic lateral sclerosis
Familial isolated dilated cardiomyopathy
Intermediate nemaline myopathy
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Inflammatory myofibroblastic tumor
Left ventricular noncompaction
Amish nemaline myopathy
Cowden syndrome
Proteus syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2B
Chronic mucocutaneous candidiasis
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Miyoshi myopathy
Muscle filaminopathy
Young adult-onset Parkinsonism
Congenital myopathy with excess of thin filaments
Severe congenital nemaline myopathy
Catecholaminergic polymorphic ventricular tachycardia
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):
- Distal Arthrogryposis type 2B
- Freeman-Sheldon syndrome variant
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MYH3 P11055160720
TNNI2 P48788191043
TNNT3 P45378600692
TPM2 P07951190990
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