Hypoglossia-hypodactyly syndrome
Findings
No curated finding names Hypoglossia-hypodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.
Definition from the Mondo Disease Ontology (MONDO:0007073), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
25 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.
- Aplasia/Hypoplasia of the tongueHPOHP:0010295
- Very frequent (80% to 99% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Upper limb phocomeliaHPOHP:0009813
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphology
Where it sits
Other names
3 names
Resolves to: Hypoglossia-hypodactyly syndrome
- Also called
- aglossia-adactylia syndromeHanhart SyndromeJussieu syndrome