Osteolysis Syndrome, Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 259610

Orphanet ⁵⁸ ORPHA2776

MedGen ⁴¹ C1850143

SNOMED-CT via HPO ⁶⁸ 18265008 202271004 202289003 more

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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

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Related Diseases for Osteolysis Syndrome, Recessive

Diseases in the Primary Osteolysis family:

Osteolysis Syndrome, Recessive

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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

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Drugs & Therapeutics for Osteolysis Syndrome, Recessive

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

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Genetic Tests for Osteolysis Syndrome, Recessive

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Anatomical Context for Osteolysis Syndrome, Recessive

MalaCards organs/tissues related to Osteolysis Syndrome, Recessive:

⁴⁰

Bone, Skin

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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	Petit P...Fryns JP	3789013	1986

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Genes for Osteolysis Syndrome, Recessive

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Variations for Osteolysis Syndrome, Recessive

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Expression for Osteolysis Syndrome, Recessive

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

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Pathways for Osteolysis Syndrome, Recessive

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GO Terms for Osteolysis Syndrome, Recessive

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