marfanoid habitus-autosomal recessive intellectual disability syndrome
Findings
No curated finding names marfanoid habitus-autosomal recessive intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0009566), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Disproportionate tall statureHPOHP:0001519
- Very frequent (80% to 99% of cases)
- Eunuchoid habitusHPOHP:0003782
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Increased arm spanHPOHP:0012771
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Slender long boneHPOHP:0003100
- Very frequent (80% to 99% of cases)
Show the remaining 31
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplasia of the musculatureHPOHP:0009004
- Frequent (30% to 79% of cases)