CDP-PBHM
MCID: CHN050
MIFTS: 23

Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia (CDP-PBHM)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

MalaCards integrated aliases for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

Name: Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 56 73 29 13 6
Chondrodysplasia, with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 39
X-Linked Dominant Chondrodysplasia-Hydrocephaly-Microphthalmia Syndrome 58
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type 58
Cdp-Pbhm 73

Characteristics:

Orphanet epidemiological data:

58
x-linked dominant chondrodysplasia, chassaing-lacombe type
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked dominant

Miscellaneous:
carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)
based on one report of a 4-generation family with 4 affected males and 6 affected females


HPO:

31
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia:
Clinical modifier death in infancy
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

UniProtKB/Swiss-Prot : 73 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild mental retardation.

MalaCards based summary : Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia, also known as chondrodysplasia, with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, is related to brachydactyly and microphthalmia. An important gene associated with Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia is HDAC6 (Histone Deacetylase 6). Affiliated tissues include bone, and related phenotypes are short nose and hydrocephalus

More information from OMIM: 300863

Related Diseases for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Diseases related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 29.7 HDAC6 CPBHM
2 microphthalmia 10.5

Symptoms & Phenotypes for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Human phenotypes related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
2 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
3 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
5 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
6 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
7 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
8 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
9 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
10 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
11 hypoplastic iliac wing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002866
12 metaphyseal chondrodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005871
13 metaphyseal cupping of metacarpals 58 31 hallmark (90%) Very frequent (99-80%) HP:0006028
14 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
15 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
16 abnormality of the calcaneus 58 31 frequent (33%) Frequent (79-30%) HP:0008364
17 thin ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000883
18 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
21 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
22 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
23 11 pairs of ribs 31 occasional (7.5%) HP:0000878
24 macrocephaly 31 HP:0000256
25 short stature 58 Very frequent (99-80%)
26 death in infancy 58 Frequent (79-30%)
27 decreased skull ossification 31 HP:0004331
28 distal shortening of limbs 31 HP:0006402
29 metaphyseal cupping of proximal phalanges 31 HP:0006208
30 hypoplasia of the calcaneus 31 HP:0012789

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
hydrocephaly

Head And Neck Nose:
short nose
flat nose

Head And Neck Face:
frontal bossing

Head And Neck Ears:
low-set ears

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
11 pairs of ribs (in some male patients)

Skeletal Spine:
platyspondyly, severe

Skeletal Limbs:
rhizomelic shortening (in carrier females)

Neurologic Central Nervous System:
mental retardation, mild (in some females)

Skeletal Skull:
macrocephaly
poor mineralization of skull

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
microphthalmia

Skeletal Hands:
metaphyseal cupping of metacarpals
metaphyseal cupping of phalanges

Skeletal Pelvis:
hypoplasia of iliac wings (mild in carrier females)
poor ossification of pubis

Skeletal Feet:
metaphyseal cupping of phalanges
hypoplastic calcaneus
metaphyseal cupping of metatarsals

Clinical features from OMIM:

300863

Drugs & Therapeutics for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia

Genetic Tests for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Genetic tests related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

# Genetic test Affiliating Genes
1 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 29 HDAC6

Anatomical Context for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

MalaCards organs/tissues related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

40
Bone

Publications for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Articles related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

# Title Authors PMID Year
1
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. 56 6 61
16001442 2005
2
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. 6 56
20181727 2010

Variations for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

ClinVar genetic disease variations for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HDAC6 NM_006044.4(HDAC6):c.*282A>TSNV Pathogenic 65387 rs398122390 X:48683304-48683304 X:48824894-48824894

Expression for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Search GEO for disease gene expression data for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia.

Pathways for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

GO Terms for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Sources for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
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44 MESH via Orphanet
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48 NCI
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54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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