MCID: OST149
MIFTS: 18

Osteolysis Syndrome, Recessive

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

Aliases & Classifications for Osteolysis Syndrome, Recessive

MalaCards integrated aliases for Osteolysis Syndrome, Recessive:

Name: Osteolysis Syndrome, Recessive 56
Osteolysis, Distal, with Short Stature, Mental Retardation, and Characteristic Facial Appearance 56 52
Distal Osteolysis-Short Stature-Intellectual Disability Syndrome 52 58
Autosomal Recessive Distal Osteolysis Syndrome 52 58
Petit-Fryns Syndrome 52 58
Recessive Osteolysis Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive distal osteolysis syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood (age 3)


HPO:

31
osteolysis syndrome, recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteolysis Syndrome, Recessive

MalaCards based summary : Osteolysis Syndrome, Recessive, is also known as osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance. Affiliated tissues include bone and skin, and related phenotypes are abnormality of the dentition and short stature

More information from OMIM: 259610

Related Diseases for Osteolysis Syndrome, Recessive

Diseases in the Primary Osteolysis family:

Osteolysis Syndrome, Recessive

Symptoms & Phenotypes for Osteolysis Syndrome, Recessive

Human phenotypes related to Osteolysis Syndrome, Recessive:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
4 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
5 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
6 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
7 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
8 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
9 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
10 intellectual disability 31 HP:0001249
11 elbow flexion contracture 31 HP:0002987
12 abnormality of the foot 31 HP:0001760
13 knee flexion contracture 31 HP:0006380
14 metacarpal osteolysis 31 HP:0001504
15 osteolytic defects of the distal phalanges of the hand 31 HP:0009839
16 distal radial epiphyseal osteolysis 31 HP:0006449
17 osteolytic defects of the middle phalanges of the hand 31 HP:0009847
18 osteolytic defects of the proximal phalanges of the hand 31 HP:0009855

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Nose:
broad nasal tip

Neurologic Central Nervous System:
mental retardation

Skeletal Hands:
normal carpals
loose volar skin of hands
absent distal and middle phalanges
proximal phalanges osteolysis
metacarpals osteolysis

Skin Nails Hair Skin:
loose volor skin of hands

Skeletal Limbs:
elbow flexion contracture
distal radial epiphyseal osteolysis
knee flexion contractures
distal ulnar epiphyseal osteolysis

Head And Neck Face:
maxillary hypoplasia

Head And Neck Eyes:
exophthalmos

Skeletal Feet:
normal tarsals
absent distal and middle phalanges
severe bone resorption of feet

Clinical features from OMIM:

259610

Drugs & Therapeutics for Osteolysis Syndrome, Recessive

Search Clinical Trials , NIH Clinical Center for Osteolysis Syndrome, Recessive

Genetic Tests for Osteolysis Syndrome, Recessive

Anatomical Context for Osteolysis Syndrome, Recessive

MalaCards organs/tissues related to Osteolysis Syndrome, Recessive:

40
Bone, Skin

Publications for Osteolysis Syndrome, Recessive

Articles related to Osteolysis Syndrome, Recessive:

# Title Authors PMID Year
1
Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: delineation of an autosomal recessive subtype of essential osteolysis. 56
3789013 1986

Variations for Osteolysis Syndrome, Recessive

Expression for Osteolysis Syndrome, Recessive

Search GEO for disease gene expression data for Osteolysis Syndrome, Recessive.

Pathways for Osteolysis Syndrome, Recessive

GO Terms for Osteolysis Syndrome, Recessive

Sources for Osteolysis Syndrome, Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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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