Autosomal recessive distal osteolysis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOLYSIS, DISTAL, WITH SHORT STATURE, MENTAL RETARDATION, AND CHARACTERISTIC FACIAL APPEARANCE
Distal osteolysis - short stature - intellectual deficit
Petit-Fryns syndrome
Number of Symptoms 30
OrphanetNr: 2776
OMIM Id: 259610
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary osteolysis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000455) Broad nasal tip 67 / 7739
2
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
3
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
4
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
5
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
6
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
7
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0002987) Elbow flexion contracture 64 / 7739
10
 (HPO:0001504) Metacarpal osteolysis 3 / 7739
11
 (HPO:0001760) Abnormality of the foot 96 / 7739
12
 (HPO:0006449) Distal radial epiphyseal osteolysis 1 / 7739
13
 (HPO:0009839) Osteolytic defects of the distal phalanges of the hand 6 / 7739
14
 (HPO:0009847) Osteolytic defects of the middle phalanges of the hand 1 / 7739
15
 (HPO:0006380) Knee flexion contracture 56 / 7739
16
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
17
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
18
 (HPO:0009855) Osteolytic defects of the proximal phalanges of the hand 1 / 7739
19
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
20
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
21
 (OMIM) Normal tarsal 3 / 7739
22
 (OMIM) Normal carpals 2 / 7739
23
 (OMIM) Absent distal and middle phalanges 2 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Loose volar skin of hands 1 / 7739
26
 (OMIM) Severe bone resorption of feet 1 / 7739
27
 (OMIM) Loose volor skin of hands 1 / 7739
28
 (HPO:0003621) Juvenile onset 105 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
30
 (OMIM) Distal ulnar epiphyseal osteolysis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: