X-linked dominant chondrodysplasia, Chassaing-Lacombe type

General Information (adopted from Orphanet):

Synonyms, Signs: X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia
Number of Symptoms 48
OrphanetNr: 163966
OMIM Id: 300863
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000568) Microphthalmia 183 / 7739
2
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
3
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
4
(HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
5
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
6
(HPO:0001256) Intellectual disability, mild 141 / 7739
7
(HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
8
(HPO:0003028) Abnormality of the ankles Frequent [Orphanet] 14 / 7739
9
(HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
10
(HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
11
(HPO:0002866) Hypoplastic iliac wing 34 / 7739
12
(HPO:0006028) Metaphyseal cupping of metacarpals 4 / 7739
13
(HPO:0006208) Metaphyseal cupping of proximal phalanges 2 / 7739
14
(HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
15
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
16
(HPO:0006402) Distal shortening of limbs 2 / 7739
17
(HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
18
(HPO:0004331) Decreased skull ossification 31 / 7739
19
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
20
(HPO:0000256) Macrocephaly 298 / 7739
21
(HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
22
(HPO:0000878) 11 pairs of ribs rare [HPO:skoehler] 19 / 7739
23
(HPO:0000883) Thin ribs 31 / 7739
24
(HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
25
(HPO:0004565) Severe platyspondyly 13 / 7739
26
(HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
27
(HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
28
(HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
29
(HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
30
(HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
31
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
32
(HPO:0000369) Low-set ears 372 / 7739
33
(HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
34
(HPO:0100555) Asymmetric growth Frequent [Orphanet] 25 / 7739
35
(HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
36
(HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
37
(HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
38
(HPO:0012789) Hypoplasia of the calcaneus 1 / 7739
39
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
40
(HPO:0001423) X-linked dominant inheritance 69 / 7739
41
(OMIM) 11 rib pairs in some male patients 1 / 7739
42
(OMIM) Hypoplasia of iliac wing (in some patients) 2 / 7739
43
(OMIM) Hypoplastic calcaneus 1 / 7739
44
(OMIM) Metaphyseal cupping of metatarsals 1 / 7739
45
(OMIM) Metaphyseal cupping of phalanges 1 / 7739
46
(OMIM) Poor mineralization of skull 1 / 7739
47
(OMIM) Poor ossification of pubis 1 / 7739
48
(OMIM) Rhizomelic shortening 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chassaing et al. (2005) reported a 4-generation family segregating an apparent X-linked dominant chondrodysplasia, in which 4 males and 6 females were affected. Features seen in the affected males included intrauterine growth retardation and hydrocephaly, macrocephaly, frontal bossing, ...
Molecular genetics OMIM By exon sequencing, Simon et al. (2010) identified a variant in exon 29 of the HDAC6 gene, 281 bp after the translation termination codon (c.*281A>T; 300272.0001) that completely segregated with the chondrodysplasia phenotype in the family described by ...