Lethal multiple pterygium syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
LMPS
Autosomal recessive lethal multiple pterygium syndrome
Number of Symptoms 71
OrphanetNr: 33108
OMIM Id: 253290
ICD-10: Q79.8
UMLs: C1854678
MeSH: C537378
MedDRA:
Snomed: 60192008

Prevalence, inheritance and age of onset:

Prevalence: 28 families [Orphanet]
Inheritance: Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Multiple pterygium syndrome
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
3
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
4
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
7
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
8
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
9
 (HPO:0000175) Cleft palate 349 / 7739
10
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
11
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
12
 (HPO:0000465) Webbed neck Very frequent [Orphanet] 81 / 7739
13
 (HPO:0000457) Depressed nasal ridge 85 / 7739
14
 (HPO:0000202) Oral cleft 120 / 7739
15
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
16
 (HPO:0000476) Cystic hygroma Very frequent [Orphanet] 22 / 7739
17
 (HPO:0001999) Abnormal facial shape 169 / 7739
18
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
19
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
20
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
21
 (HPO:0000369) Low-set ears 372 / 7739
22
 (HPO:0002304) Akinesia 18 / 7739
23
 (HPO:0012639) Abnormality of nervous system morphology Occasional [Orphanet] 25 / 7739
24
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
25
 (HPO:0009756) Popliteal pterygium Very frequent [Orphanet] 9 / 7739
26
 (HPO:0003179) Protrusio acetabuli 37 / 7739
27
 (HPO:0005257) Thoracic hypoplasia Frequent [Orphanet] 79 / 7739
28
 (HPO:0003994) Dislocated wrist 24 / 7739
29
 (HPO:0001371) Flexion contracture 220 / 7739
30
 (HPO:0009381) Short finger 45 / 7739
31
 (HPO:0002948) Vertebral fusion 28 / 7739
32
 (HPO:0002827) Hip dislocation 94 / 7739
33
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
34
 (HPO:0003042) Elbow dislocation 89 / 7739
35
 (HPO:0012095) Multiple joint dislocation 24 / 7739
36
 (HPO:0000883) Thin ribs 31 / 7739
37
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
38
 (HPO:0001373) Joint dislocation 59 / 7739
39
 (HPO:0002999) Patellar dislocation 46 / 7739
40
 (HPO:0100240) Synostosis of joints Occasional [Orphanet] 11 / 7739
41
 (HPO:0002659) Increased susceptibility to fractures 110 / 7739
42
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
43
 (HPO:0001040) Multiple pterygia 5 / 7739
44
 (HPO:0003834) Shoulder dislocation 28 / 7739
45
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
46
 (HPO:0005905) Abnormal cervical curvature 2 / 7739
47
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
48
 (HPO:0001989) Fetal akinesia sequence 14 / 7739
49
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
50
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 63 / 7739
51
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
52
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
53
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
54
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
55
 (HPO:0007477) Abnormal dermatoglyphics Occasional [Orphanet] 72 / 7739
56
 (HPO:0001961) Hypoplastic heart 9 / 7739
57
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
58
 (HPO:0000969) Edema 117 / 7739
59
 (HPO:0002047) Malignant hyperthermia Occasional [Orphanet] 20 / 7739
60
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
61
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
62
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
63
 (HPO:0003634) Amyoplasia 3 / 7739
64
 (OMIM) Congenital bone fusions 2 / 7739
65
 (MedDRA:10017322) Fractures 18 / 7739
66
 (MedDRA:10017076) Fracture 18 / 7739
67
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
68
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
69
 (OMIM) Microbrachydactyly 2 / 7739
70
 (OMIM) Jugular lymphatic obstruction sequence 2 / 7739
71
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In addition to a lethal multiple pterygium syndrome (Gillin and Pryse-Davies, 1976), Hall (1984) identified 2 other possibly distinct forms: one with spinal fusion and one with congenital bone fusions (van Regemorter et al., 1984). Chen et al. ...
Molecular genetics OMIM Hoffmann et al. (2006) and Morgan et al. (2006) found mutations in the CHRNG gene (e.g., 100730.0002) causing the lethal form of multiple pterygium syndrome.

Michalk et al. (2008) found mutations in the CHRNA1 (e.g., 100690.0013) ...