METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS

General Information (adopted from Orphanet):

Synonyms, Signs: CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY
CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY
CHHV
Number of Symptoms 26
OrphanetNr:
OMIM Id: 250460
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003026) Short long bone 51 / 7739
2
 (HPO:0000925) Abnormality of the vertebral column 20 / 7739
3
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
4
 (HPO:0006028) Metaphyseal cupping of metacarpals 4 / 7739
5
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
6
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
7
 (HPO:0002983) Micromelia 130 / 7739
8
 (HPO:0010049) Short metacarpal 99 / 7739
9
 (HPO:0001388) Joint laxity 117 / 7739
10
 (HPO:0002970) Genu varum 60 / 7739
11
 (HPO:0009815) Aplasia/hypoplasia of the extremities 6 / 7739
12
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
13
 (HPO:0003510) Severe short stature 90 / 7739
14
 (HPO:0001595) Abnormality of the hair 89 / 7739
15
 (HPO:0002721) Immunodeficiency 97 / 7739
16
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
17
 (HPO:0002719) Recurrent infections 107 / 7739
18
 (HPO:0002715) Abnormality of the immune system 46 / 7739
19
 (OMIM) Normal pelvis 3 / 7739
20
 (OMIM) Joint laxity, mild 4 / 7739
21
 (OMIM) Normal hair 7 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Normal facies 9 / 7739
24
 (OMIM) Normal spine 3 / 7739
25
 (OMIM) Disproportionate dwarfism 2 / 7739
26
 (OMIM) Genu varus 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Verloes et al. (1990) presented a series of 6 patients with skeletal changes precisely like those of cartilage-hair hypoplasia (CHH; 250250), but without hypotrichosis or immunodeficiency. Two of the patients were sibs. Microscopic examination of the hair showed ...
Molecular genetics OMIM In 2 unrelated boys with the cartilage-hair hypoplasia variant with only skeletal manifestations and their parents, Bonafe et al. (2002) identified 4 mutation-carrying alleles segregating with the skeletal phenotype. One allele carried the common Finnish mutation +70A-G (250250.0001); ...