microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
Findings
No curated finding names microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).
Definition from the Mondo Disease Ontology (MONDO:0014096), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Hypoplastic fifth toenailHPOHP:0011937
- 3 of 3 reported patients
- Limited elbow extensionHPOHP:0001377
- 3 of 3 reported patients
- Lingual dystoniaHPOHP:0031008
- 3 of 3 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 2 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 3 of 3 reported patients
- Spastic paraplegiaHPOHP:0001258
Show the remaining 5
- Supernumerary nippleHPOHP:0002558
- 1 of 3 reported patients
- Thin vermilion borderHPOHP:0000233
- 1 of 3 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 3 reported patients
- Wide nasal bridgeHPOHP:0000431
- 1 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
Where it sits
Other names
1 name
Resolves to: microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
- Also called
- Woods-Crouchman-Huson syndrome