marfanoid habitus-autosomal recessive intellectual disability syndrome
MeSH: C565410ORPHA: 2463
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with marfanoid habitus-autosomal recessive intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Tall statureGlobal developmental delayJoint hypermobilityDisproportionate tall statureSlender long boneEunuchoid habitusIncreased arm spanNarrow mouthHigh palateDolichocephalyMalar flatteningCoarse facial featuresHypertelorismMacrotiaWide nosePectus excavatumThin ribsOsteopeniaArachnodactylyHypotoniaLong footThenar muscle atrophyThin metacarpal corticesAbnormality of the palpebral fissuresThin metatarsal corticesHypoplasia of the musculatureAbnormal columella morphologySmall hypothenar eminenceBroad chinAbnormal bone ossificationSubcortical cerebral atrophyFlat faceBroad philtrumEsotropiaSynophrysAbnormal thymus morphologyHirsutismCardiomegalyLow posterior hairlineDelayed skeletal maturationLumbar hemivertebraeLoss of truncal subcutaneous adipose tissueMucosal telangiectasiae
Classification & Codes
MeSH Code
C565410Orphanet Code
ORPHA:2463marfanoid habitus-autosomal recessive intellectual disability syndrome
| MeSH | C565410 |
| Orphanet | ORPHA:2463 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO