Congenital ichthyosis - intellectual deficit - spastic quadriplegia

General Information (adopted from Orphanet):

Synonyms, Signs: ISQMR
Congenital ichthyosis - intellectual deficit - spastic tetraplegia
Number of Symptoms 26
OrphanetNr: 352333
OMIM Id: 614457
ICD-10: Q80.8
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: Autosomal ichthyosis syndrome with prominent neurologics signs
 -Rare genetic disease
 -Rare skin disease
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size 105 / 7739
2
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
3
 (HPO:0000649) Abnormality of visual evoked potentials rare [HPO:skoehler] 34 / 7739
4
 (HPO:0011003) Severe Myopia rare [HPO:skoehler] 31 / 7739
5
 (HPO:0002510) Spastic tetraplegia 54 / 7739
6
 (HPO:0002123) Generalized myoclonic seizures rare [HPO:skoehler] 62 / 7739
7
 (HPO:0002187) Intellectual disability, profound 44 / 7739
8
 (HPO:0001276) Hypertonia 317 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0001250) Seizures 1245 / 7739
11
 (HPO:0001371) Flexion contracture 220 / 7739
12
 (HPO:0000023) Inguinal hernia 181 / 7739
13
 (HPO:0001510) Growth delay 295 / 7739
14
 (HPO:0000958) Dry skin 152 / 7739
15
 (HPO:0000962) Hyperkeratosis 216 / 7739
16
 (HPO:0010783) Erythema 138 / 7739
17
 (HPO:0008064) Ichthyosis 108 / 7739
18
 (HPO:0002099) Asthma rare [HPO:skoehler] 62 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (OMIM) Developmental delay, profound 6 / 7739
21
 (OMIM) Collodion membrane at birth 10 / 7739
22
 (HPO:0012444) Brain atrophy rare [HPO:skoehler] 24 / 7739
23
 (HPO:0040189) Scaling skin 6 / 7739
24
 (OMIM) Immobility 1 / 7739
25
 (HPO:0003577) Congenital onset 133 / 7739
26
 (HPO:0012448) Delayed myelination rare [HPO:skoehler] 51 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This severe autosomal recessive disorder is characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).
Clinical Description OMIM Aldahmesh et al. (2011) reported 2 unrelated patients, both born of consanguineous parents, with a severe neurodevelopmental disorder associated with ichthyosis. The patients were of Saudi Arabian and Asian Indian descent, respectively. The first patient was noted to ...
Molecular genetics OMIM By autozygosity mapping followed by exome sequencing in a Saudi Arabian boy with ichthyosis, spastic quadriplegia, and mental retardation, Aldahmesh et al. (2011) identified a homozygous mutation in the ELOVL4 gene (605512.0005). Analysis of 15 additional patients with ...