Lipodystrophy - intellectual deficit - deafness

General Information (adopted from Orphanet):

Synonyms, Signs: Rajab-Spranger syndrome
Number of Symptoms 39
OrphanetNr: 50811
OMIM Id: 608154
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease
Genetic progeroid syndrome
 -Rare genetic disease
Primary bone dysplasia with defective bone mineralization
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000490) Deeply set eye 131 / 7739
2
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
3
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
5
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0100864) Short femoral neck 36 / 7739
9
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
10
 (HPO:0000938) Osteopenia 138 / 7739
11
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
12
 (HPO:0004993) Slender long bones with narrow diaphyses 1 / 7739
13
 (HPO:0002967) Cubitus valgus 49 / 7739
14
 (HPO:0002857) Genu valgum 144 / 7739
15
 (HPO:0006153) Disharmonious carpal bone 1 / 7739
16
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
17
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
18
 (HPO:0100818) Long thorax 10 / 7739
19
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
20
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
21
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
22
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
23
 (HPO:0001508) Failure to thrive 454 / 7739
24
 (HPO:0001518) Small for gestational age 107 / 7739
25
 (HPO:0007464) Sparse facial hair 2 / 7739
26
 (HPO:0005328) Progeroid facial appearance 13 / 7739
27
 (HPO:0002215) Sparse axillary hair 21 / 7739
28
 (HPO:0009059) Congenital generalized lipodystrophy 2 / 7739
29
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
30
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
31
 (HPO:0009064) Generalized lipodystrophy 17 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (OMIM) Genua valgum 2 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
35
 (OMIM) Thin body habitus 5 / 7739
36
 (OMIM) Thin limbs with prominent joints 1 / 7739
37
 (OMIM) Sparse axillary and facial hair 1 / 7739
38
 (OMIM) Progressive osteopenia 1 / 7739
39
 (OMIM) Dense longitudinal metaphyseal striations (distal femur, radius, and ulna) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rajab et al. (2003) reported 3 patients, including 2 sibs, with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense ...