X-linked lethal multiple pterygium syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PTERYGIUM SYNDROME, MULTIPLE, X-LINKED
Number of Symptoms 40
OrphanetNr: 79447
OMIM Id: 312150
ICD-10: Q79.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple pterygium syndrome
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000204) Cleft upper lip 193 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000457) Depressed nasal ridge 85 / 7739
4
 (HPO:0000476) Cystic hygroma 22 / 7739
5
 (HPO:0000202) Oral cleft 120 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0000286) Epicanthus 371 / 7739
9
 (HPO:0001999) Abnormal facial shape 169 / 7739
10
 (HPO:0000369) Low-set ears 372 / 7739
11
 (HPO:0001373) Joint dislocation 59 / 7739
12
 (HPO:0002999) Patellar dislocation 46 / 7739
13
 (HPO:0003834) Shoulder dislocation 28 / 7739
14
 (HPO:0003179) Protrusio acetabuli 37 / 7739
15
 (HPO:0009381) Short finger 45 / 7739
16
 (HPO:0012095) Multiple joint dislocation 24 / 7739
17
 (HPO:0002827) Hip dislocation 94 / 7739
18
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
19
 (HPO:0005905) Abnormal cervical curvature 2 / 7739
20
 (HPO:0003994) Dislocated wrist 24 / 7739
21
 (HPO:0000883) Thin ribs 31 / 7739
22
 (HPO:0002948) Vertebral fusion 28 / 7739
23
 (HPO:0003042) Elbow dislocation 89 / 7739
24
 (HPO:0001371) Flexion contracture 220 / 7739
25
 (HPO:0001040) Multiple pterygia 5 / 7739
26
 (HPO:0002659) Increased susceptibility to fractures 110 / 7739
27
 (HPO:0001561) Polyhydramnios 191 / 7739
28
 (HPO:0001989) Fetal akinesia sequence 14 / 7739
29
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
30
 (HPO:0001961) Hypoplastic heart 9 / 7739
31
 (HPO:0000969) Edema 117 / 7739
32
 (HPO:0002047) Malignant hyperthermia 20 / 7739
33
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
34
 (HPO:0003634) Amyoplasia 3 / 7739
35
 (OMIM) Congenital bone fusions 2 / 7739
36
 (OMIM) Jugular lymphatic obstruction sequence 2 / 7739
37
 (MedDRA:10017322) Fractures 18 / 7739
38
 (MedDRA:10017076) Fracture 18 / 7739
39
 (HPO:0001417) X-linked inheritance 173 / 7739
40
 (OMIM) Microbrachydactyly 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: