Brachymetapody-anodontia-hypotrichosis-albinoidism

Preferred Label : Brachymetapody-anodontia-hypotrichosis-albinoidism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Anodontia-hypotrichosis syndrome; Oculoosteocutaneous syndrome;

Description : Tuomaala and Haapanen (1968) described a Finnish family in which 2 sisters and a brother had an identical syndrome of congenital anodontia, small maxilla giving an impression of mandibular prognathism, short stature with particular shortening of the metacarpals and metatarsals, little hair growth, albinoidism, and multiple ocular abnormalities including strabismus, nystagmus, distichiasis, lenticular opacities, and high-grade myopia. The parents were not known to be related but came from the same parish in northeast Finland. *FIELD* RF 1. Tuomaala, P.; Haapanen, E.: Three siblings with similar anomalies in the eyes, bones and skin. Acta Ophthal. 46: 365-371, 1968. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 211370;

Details

Origin ID

211370;

UMLS CUI

C1859385;

Automatic exact mappings (from CISMeF team)
- Oculo-osteo-cutaneous syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Brachymetapody-Anodontia-Hypotrichosis-Albinoidism [MeSH concept]
- Brachymetapody-Anodontia-Hypotrichosis-Albinoidism [MeSH Supplementary Concept]
- Oculoosteocutaneous syndrome [ORDO Disease]
- Oculoosteocutaneous syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Absent axillary hair [HPO term]
- Absent pubic hair [HPO term]
- Anodontia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Corneal opacity [HPO term]
- Distichiasis [HPO term]
- Downslanted palpebral fissures [HPO term]
- Fine hair [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypoplastic nipples [HPO term]
- Hypotrichosis [HPO term]
- Labial hypoplasia [HPO term]
- Low-set ears [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Opacification of the corneal stroma [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Thin hair [HPO term]
ORDO concept(s)
- Oculoosteocutaneous syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachymetapody-Anodontia-Hypotrichosis-Albinoidism [MeSH Supplementary Concept]
- Brachymetapody-Anodontia-Hypotrichosis-Albinoidism [MeSH concept]
- Oculoosteocutaneous syndrome [ORDO Disease]
- Oculoosteocutaneous syndrome (disorder) [SNOMED CT concept]

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