Charlie M syndrome
Findings
No curated finding names Charlie M syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.
Definition from the Mondo Disease Ontology (MONDO:0015367), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
Show the remaining 4
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Occasional (5% to 29% of cases)
- Triphalangeal thumbHPOHP:0001199
- Occasional (5% to 29% of cases)