Rare diseases · Sign or symptom
Disproportionate tall stature
HP:0001519
What it means
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Rare diseases that can present with this26
Very common80–99%
10- 15q overgrowth syndrome
- Fryns-Smeets-Thiry syndrome
- Homocystinuria due to cystathionine beta-synthase deficiency
- Hydrocephaly-tall stature-joint laxity syndrome
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Lujan-Fryns syndrome
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Marfan syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Proteus syndrome
Common30–79%
6Sometimes5–29%
9- Alpha-mannosidosis, infantile form
- Aneurysm-osteoarthritis syndrome
- Bainbridge-Ropers syndrome
- Cardiac-valvular Ehlers-Danlos syndrome
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Kyphoscoliotic Ehlers-Danlos syndrome
- Multiple endocrine neoplasia type 2
- Perrault syndrome
and 1 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Dolichostenomelia · Marfanoid body habitus · Marfanoid habitus · Reduced upper-lower segment ratio
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.