Hypertrichosis cubiti-short stature syndrome
diseaseOn this page
Also known as hairy elbowshairy elbows syndromehypertrichosis cubitiMacDermot-Patton-Williams syndrome
Summary
Hypertrichosis cubiti-short stature syndrome (MONDO:0007693) is a disease. A subtype of hypertrichosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 27
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 28 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
27 HPO clinical features (Orphanet curated; top 27 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002230 | Generalized hirsutism | Very frequent (80-99%) |
| HP:0002983 | Micromelia | Very frequent (80-99%) |
| HP:0003510 | Severe short stature | Very frequent (80-99%) |
| HP:0008905 | Rhizomelia | Very frequent (80-99%) |
| HP:0009811 | Abnormality of the elbow | Very frequent (80-99%) |
| HP:0011121 | Abnormal skin morphology | Very frequent (80-99%) |
| HP:0000311 | Round face | Frequent (30-79%) |
| HP:0000324 | Facial asymmetry | Frequent (30-79%) |
| HP:0002300 | Mutism | Frequent (30-79%) |
| HP:0002381 | Aphasia | Frequent (30-79%) |
| HP:0010529 | Echolalia | Frequent (30-79%) |
| HP:0001382 | Joint hypermobility | Occasional (5-29%) |
| HP:0000252 | Microcephaly | Occasional (5-29%) |
| HP:0000271 | Abnormality of the face | Occasional (5-29%) |
| HP:0000348 | High forehead | Occasional (5-29%) |
| HP:0000426 | Prominent nasal bridge | Occasional (5-29%) |
| HP:0000464 | Abnormality of the neck | Occasional (5-29%) |
| HP:0000492 | Abnormal eyelid morphology | Occasional (5-29%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (5-29%) |
| HP:0000499 | Abnormal eyelash morphology | Occasional (5-29%) |
| HP:0000508 | Ptosis | Occasional (5-29%) |
| HP:0000574 | Thick eyebrow | Occasional (5-29%) |
| HP:0000614 | Abnormal nasolacrimal system morphology | Occasional (5-29%) |
| HP:0001249 | Intellectual disability | Occasional (5-29%) |
| HP:0001263 | Global developmental delay | Occasional (5-29%) |
| HP:0001328 | Specific learning disability | Occasional (5-29%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hypertrichosis cubiti-short stature syndrome |
| Mondo ID | MONDO:0007693 |
| MeSH | C535618 |
| OMIM | 139600 |
| Orphanet | 2220 |
| UMLS | C4025295 |
| MedGen | 870835 |
| GARD | 0000143 |
| MedDRA | 10068636 |
| Is cancer (heuristic) | no |
Also known as: hairy elbows · hairy elbows syndrome · hypertrichosis cubiti · MacDermot-Patton-Williams syndrome
Disease family
This is a subtype of hypertrichosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hypertrichosis › hypertrichosis cubiti-short stature syndrome
Related subtypes (10): hypertrichosis of eyelid, gingival fibromatosis-hypertrichosis syndrome, cataract-hypertrichosis-intellectual disability syndrome, cervical hypertrichosis-peripheral neuropathy syndrome, Rabson-Mendenhall syndrome, isolated anterior cervical hypertrichosis, acquired hypertrichosis lanuginosa, hypertrichosis lanuginosa congenita, autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome, hypertrichosis-acromegaloid facial appearance syndrome
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.