Sheldon-hall syndrome
Findings
No curated finding names Sheldon-hall syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Definition from the Mondo Disease Ontology (MONDO:0011128), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adducted thumbHPOHP:0001181
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Webbed neckHPOHP:0000465
- Very frequent (80% to 99% of cases)
- Abnormal hip bone morphologyHPOHP:0003272
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Narrow faceHPOHP:0000275
- Frequent (30% to 79% of cases)
- Overlapping fingersHPOHP:0010557
- Frequent (30% to 79% of cases)
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
Show the remaining 8
- Round earHPOHP:0100830
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Tarsal synostosisHPOHP:0008368
- Frequent (30% to 79% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Frequent (30% to 79% of cases)
- Ulnar deviation of the wristHPOHP:0003049
- Frequent (30% to 79% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYH3HGNC:7573
- Supportive · Orphanet · Autosomal dominant · 2021
- NALCNHGNC:19082
- Supportive · Orphanet · Autosomal dominant · 2021
- TNNI2HGNC:11946
- Supportive · Orphanet · Autosomal dominant · 2021
- TNNT3HGNC:11950
- Supportive · Orphanet · Autosomal dominant · 2021
- TPM2HGNC:12011
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Sheldon-hall syndrome
- Also called
- arthrogryposis, distal, type 2BDA2Bdistal arthrogryposis type 2BFreeman-Sheldon syndrome variant