MCID: LPD041
MIFTS: 16

Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones

Categories: Bone diseases, Ear diseases, Endocrine diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

MalaCards integrated aliases for Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones:

Name: Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 57
Lipodystrophy-Intellectual Disability-Deafness Syndrome 59
Rajab-Spranger Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
lipodystrophy-intellectual disability-deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608154
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 73 C1842465
Orphanet 59 ORPHA50811
MedGen 42 C1842465

Summaries for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

MalaCards based summary : Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones, is also known as lipodystrophy-intellectual disability-deafness syndrome. Affiliated tissues include bone, eye and skin, and related phenotypes are osteopenia and intellectual disability

More information from OMIM: 608154

Related Diseases for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Symptoms & Phenotypes for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Human phenotypes related to Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
8 slender build 59 32 hallmark (90%) Very frequent (99-80%) HP:0001533
9 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001518
10 progeroid facial appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005328
11 generalized lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009064
12 slender long bones with narrow diaphyses 59 32 hallmark (90%) Very frequent (99-80%) HP:0004993
13 dense metaphyseal bands 59 32 hallmark (90%) Very frequent (99-80%) HP:0100959
14 genu valgum 32 HP:0002857
15 seizures 32 HP:0001250
16 delayed skeletal maturation 32 HP:0002750
17 cubitus valgus 32 HP:0002967
18 deeply set eye 32 HP:0000490
19 hypoplasia of the maxilla 32 HP:0000327
20 long thorax 32 HP:0100818
21 sparse axillary hair 32 HP:0002215
22 short femoral neck 32 HP:0100864
23 sparse facial hair 32 HP:0007464
24 congenital generalized lipodystrophy 32 HP:0009059
25 abnormality of the rib cage 32 HP:0001547
26 metaphyseal striations 32 HP:0031367
27 disharmonious carpal bone 32 HP:0006153

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
mental retardation

Growth Height:
short stature

Chest External Features:
long thorax

Skeletal Hands:
disharmonious carpal bone

Skeletal:
delayed bone age
progressive osteopenia

Growth Weight:
low birth weight
thin body habitus

Head And Neck Ears:
sensorineural hearing loss (onset early childhood)

Growth Other:
failure to thrive
intrauterine growth retardation

Skeletal Limbs:
cubitus valgus
slender long bones with narrow diaphyses
genua valgum
thin limbs with prominent joints
dense longitudinal metaphyseal striations (distal femur, radius, and ulna)

Muscle Soft Tissue:
congenital generalized lipodystrophy

Head And Neck Face:
maxillary hypoplasia
progeroid facial appearance (onset childhood)

Head And Neck Eyes:
deep-set eyes

Skeletal Pelvis:
short femoral necks

Skin Nails Hair Skin:
sparse axillary and facial hair

Clinical features from OMIM:

608154

Drugs & Therapeutics for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones

Genetic Tests for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Anatomical Context for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

MalaCards organs/tissues related to Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones:

41
Bone, Eye, Skin

Publications for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Articles related to Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones:

# Title Authors PMID Year
1
Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome? 8
12923870 2003

Variations for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Expression for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Search GEO for disease gene expression data for Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones.

Pathways for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

GO Terms for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Sources for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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