Congenital cataract-hearing loss-severe developmental delay syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CCHLND
Lethal neurodegenerative disorder due to copper transport defect
Congenital cataract-deafness-severe developmental delay syndrome
Number of Symptoms 22
OrphanetNr: 300313
OMIM Id: 614482
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000519) Congenital cataract 73 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0000365) Hearing impairment 539 / 7739
4
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
5
 (HPO:0001344) Absent speech 57 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
8
 (HPO:0010837) Decreased serum ceruloplasmin 2 / 7739
9
 (HPO:0001252) Muscular hypotonia 990 / 7739
10
 (HPO:0001324) Muscle weakness 859 / 7739
11
 (HPO:0010547) Muscle flaccidity 466 / 7739
12
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
 (HPO:0003593) Infantile onset 249 / 7739
14
 (OMIM) Wide subarachnoid spaces 1 / 7739
15
 (OMIM) Decreased serum copper 2 / 7739
16
 (HPO:0003676) Progressive disorder 148 / 7739
17
 (HPO:0001272) Cerebellar atrophy 197 / 7739
18
 (OMIM) Lack of speech 17 / 7739
19
 (HPO:0003429) CNS hypomyelination 21 / 7739
20
 (HPO:0002059) Cerebral atrophy 171 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Inability to sit or walk independently 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination ...
Clinical Description OMIM Horvath et al. (2005) reported a boy, born of consanguineous Arab parents, who presented in the first weeks of life with severe hypotonia, weakness of the neck muscles, and bilateral congenital cataracts. Examination at age 4 months showed ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing in 3 consanguineous families with autosomal recessive congenital cataracts, hearing loss, and neurodegeneration associated with low serum copper and ceruloplasmin, Huppke et al. (2012) identified 5 different pathogenic mutations in ...