Autosomal recessive multiple pterygium syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PTERYGIUM COLLI SYNDROME
MULTIPLE PTERYGIUM SYNDROME
MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
PTERYGIUM UNIVERSALE
PTERYGIUM SYNDROME
EVMPS
escobar syndrome
Escobar variant multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
Number of Symptoms 111
OrphanetNr: 2990
OMIM Id: 265000
ICD-10: Q79.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
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:0008729) Absence of labia majora 1 / 7739
3
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
 (HPO:0000046) Scrotal hypoplasia Occasional [Orphanet] 54 / 7739
5
 (HPO:0000047) Hypospadias 250 / 7739
6
 (HPO:0000028) Cryptorchidism 347 / 7739
7
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
8
 (HPO:0002714) Downturned corners of mouth 98 / 7739
9
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
10
 (HPO:0000160) Narrow mouth 188 / 7739
11
 (HPO:0000218) High palate 356 / 7739
12
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
13
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
14
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
15
 (HPO:0000347) Micrognathia 426 / 7739
16
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
17
 (HPO:0000464) Abnormality of the neck 31 / 7739
18
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
19
 (HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
20
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
21
 (HPO:0000175) Cleft palate 349 / 7739
22
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
23
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
24
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
25
 (HPO:0000465) Webbed neck Very frequent [Orphanet] 81 / 7739
26
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
27
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
28
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
29
 (HPO:0002162) Low posterior hairline Occasional [Orphanet] 88 / 7739
30
 (HPO:0000163) Abnormality of the oral cavity Occasional [Orphanet] 37 / 7739
31
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
32
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
33
 (HPO:0004459) Exostosis of the external auditory canal 2 / 7739
34
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
35
 (HPO:0000369) Low-set ears 372 / 7739
36
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
37
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
38
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
39
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
40
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
41
 (HPO:0002557) Hypoplastic nipples 33 / 7739
42
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
43
 (HPO:0006443) Patellar aplasia 14 / 7739
44
 (HPO:0009760) Antecubital pterygium 5 / 7739
45
 (HPO:0012385) Camptodactyly 113 / 7739
46
 (HPO:0001884) Talipes calcaneovalgus 14 / 7739
47
 (HPO:0006446) Dysplastic patella 1 / 7739
48
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
49
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
50
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
51
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
52
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
53
 (HPO:0009759) Neck pterygia 1 / 7739
54
 (HPO:0000890) Long clavicles 13 / 7739
55
 (HPO:0002827) Hip dislocation 94 / 7739
56
 (HPO:0001838) Rocker bottom foot 85 / 7739
57
 (HPO:0002803) Congenital contracture Frequent [Orphanet] 45 / 7739
58
 (HPO:0001836) Camptodactyly of toe 27 / 7739
59
 (HPO:0009761) Anterior clefting of vertebral bodies 1 / 7739
60
 (HPO:0002808) Kyphosis 289 / 7739
61
 (HPO:0001059) Pterygium Occasional [Orphanet] 16 / 7739
62
 (HPO:0001762) Talipes equinovarus 309 / 7739
63
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
64
 (HPO:0000766) Abnormality of the sternum Very frequent [Orphanet] 31 / 7739
65
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
66
 (HPO:0001760) Abnormality of the foot Frequent [Orphanet] 96 / 7739
67
 (HPO:0003083) Dislocated radial head 35 / 7739
68
 (HPO:0009757) Intercrural pterygium 2 / 7739
69
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
70
 (HPO:0001371) Flexion contracture 220 / 7739
71
 (HPO:0001060) Axillary pterygia 4 / 7739
72
 (HPO:0001159) Syndactyly 140 / 7739
73
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
74
 (HPO:0000902) Rib fusion 19 / 7739
75
 (HPO:0005617) Bilateral camptodactyly 4 / 7739
76
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
77
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
78
 (HPO:0001166) Arachnodactyly 62 / 7739
79
 (HPO:0009756) Popliteal pterygium Frequent [Orphanet] 9 / 7739
80
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
81
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
82
 (HPO:0001558) Decreased fetal movement 74 / 7739
83
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
84
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Frequent [Orphanet] 55 / 7739
85
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
86
 (HPO:0000023) Inguinal hernia 181 / 7739
87
 (HPO:0009110) Diaphragmatic eventration 8 / 7739
88
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
89
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
90
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
91
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
92
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
93
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
94
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
95
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
96
 (HPO:0001724) Aortic dilatation Occasional [Orphanet] 24 / 7739
97
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
98
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
99
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
100
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
101
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
102
 (HPO:0012815) Hypoplastic female external genitalia Occasional [Orphanet] 36 / 7739
103
 (OMIM) Pterygia of digits, neck, axillae, antecubital, popliteal, intercrural areas 1 / 7739
104
 (OMIM) Difficulty in opening mouth 1 / 7739
105
 (OMIM) Eventration of diaphragm 4 / 7739
106
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
107
 (OMIM) Normal intelligence 81 / 7739
108
 (HPO:0012718) Morphological abnormality of the gastrointestinal tract Occasional [Orphanet] 5 / 7739
109
 (OMIM) Flat, expressionless face 1 / 7739
110
 (OMIM) Reduced muscle mass 4 / 7739
111
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous ...
Clinical Description OMIM Webbing of the neck, antecubital fossae, and popliteal fossae with sternal deformity and male hypogonadism may behave sometimes as a dominant, but there clearly appears to be a recessive pterygium syndrome. Norum et al. (1969) described a family ...
Molecular genetics OMIM Hoffmann et al. (2006) and Morgan et al. (2006) demonstrated that both the lethal and the nonlethal (Escobar) variants of multiple pterygium syndrome can be caused by mutations in the gamma, or fetal, subunit of the nicotinergic acetylcholine ...