Cartilage–hair hypoplasia
Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. It was first reported in 1965 by McKusick.
differential diagnosis
AchondroplasiaBilly BartyCHHCartalage-hair hyploplasiaCartilage-hair hypoplasiaCartilage-hair hypoplasia syndromeCartilage Hair Syndrome HypoplasiaCartilage hair hypoplasiaCelebrity Big Brother (British series 6)Fam221bFinnish heritage diseaseHirschsprung's diseaseHuman geneticsLinden PorcoList of OMIM disorder codesList of diseases (C)List of diseases (M)List of people with dwarfismList of primary immunodeficienciesList of radiographic findings associated with cutaneous conditionsList of skin conditionsMcKusick-type metaphyseal chondrodysplasiaMcKusick type metaphyseal chondrodysplasiaNon-coding RNARMRPRNase MRPRacquet nailRibosomopathyShwachman–Diamond syndromeT cellT cell deficiencyVerne Troyer
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differential
primaryTopic
Cartilage–hair hypoplasia
Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. It was first reported in 1965 by McKusick.
has abstract
Cartilage–hair hypoplasia (CHH ...... reported in 1965 by McKusick.
@en
Knorpel-Haar-Hypoplasie (engl. ...... Amish Population beschrieben.
@de
La chondrodysplasie métaphysai ...... cer de la peau et de lymphome.
@fr
La hipoplasia cartílago cabell ...... romosoma 9, locus 9p21-p12.
@es
Syndrom hypoplastických chrupa ...... ůžete mi říkat jenom Billy." "
@cs
Zespół McKusicka (dysplazja pr ...... awicieli społeczności Amiszów.
@pl
Η υποπλασία χόνδρου-μαλλιών εί ...... ώτη φορά την ασθένεια το 1965.
@el
نقص تنسج الغضروف والشعر: هو اض ...... رة في عام 1965 من قبل مكيكوسك.
@ar
ICD10
MeSH ID
OMIM id
symptoms
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Wikipage revision ID
1,020,825,987
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caption
Cartilage-hair hypoplasia has an autosomal recessive pattern of inheritance
@en
ICD
Q78.8
@en
MeshID
name
Cartilage-hair hypoplasia
@en
OMIM
Orphanet
symptoms
Abnormalities of spine
@en
Defective antibody and cell mediated immunity
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Hyperextensible joints of hand and feet
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Neutropenia
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Short limb dwarfism
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Very fine thin light hairs and eyebrows
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synonyms
McKusick type metaphyseal chondrodysplasia
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wikiPageUsesTemplate
wordnet_type
subject
hypernym
comment
Cartilage–hair hypoplasia (CHH ...... reported in 1965 by McKusick.
@en
Knorpel-Haar-Hypoplasie (engl. ...... Amish Population beschrieben.
@de
La chondrodysplasie métaphysai ...... cer de la peau et de lymphome.
@fr
La hipoplasia cartílago cabell ...... linfomas y atresia de esófago.
@es
Syndrom hypoplastických chrupa ...... ůžete mi říkat jenom Billy." "
@cs
Zespół McKusicka (dysplazja pr ...... awicieli społeczności Amiszów.
@pl
Η υποπλασία χόνδρου-μαλλιών εί ...... ώτη φορά την ασθένεια το 1965.
@el
نقص تنسج الغضروف والشعر: هو اض ...... رة في عام 1965 من قبل مكيكوسك.
@ar
label
Cartilage–hair hypoplasia
@en
Chondrodysplasie métaphysaire de McKusick
@fr
Dysplazja przynasadowa McKusicka
@pl
Hipoplasia cartílago cabello
@es
Knorpel-Haar-Hypoplasie
@de
Syndrom hypoplastických chrupavek a vlasů
@cs
Υποπλασία χόνδρων-τριχών
@el
نقص تنسج الغضروف والشعر
@ar
sameAs
wasDerivedFrom
isPrimaryTopicOf
name
Cartilage-hair hypoplasia
@en