Phocomelia, Schinzel type

General Information (adopted from Orphanet):

Synonyms, Signs: SCHINZEL PHOCOMELIA SYNDROME
AL-AWADI/RAAS-ROTHSCHILD SYNDROME
LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME
LPHAS
AARRS
Al Awadi-Raas-Rothschild syndrome
Severe limb deficit
Absence of ulna and fibula
Aplasia/hypoplasia of limbs and pelvis
Number of Symptoms 93
OrphanetNr: 2879
OMIM Id: 276820
ICD-10: Q87.2
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: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 2/3 [HPO] 3066902 IBIS 347 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
5
 (HPO:0000151) Aplasia of the uterus rare [HPO] 12 / 7739
6
 (HPO:0000046) Scrotal hypoplasia 1/3 [HPO] 3066902 IBIS 54 / 7739
7
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
8
 (HPO:0003252) Anteriorly displaced genitalia 4/5 [HPO] 3066902 IBIS 1 / 7739
9
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
10
 (HPO:0000276) Long face 2/3 [HPO] 3066902 IBIS 109 / 7739
11
 (HPO:0000475) Broad neck 3/5 [HPO] 3066902 IBIS 12 / 7739
12
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
13
 (HPO:0000218) High palate 356 / 7739
14
 (HPO:0000189) Narrow palate 45 / 7739
15
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
16
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
17
 (HPO:0001362) Calvarial skull defect Occasional [Orphanet] 22 / 7739
18
 (HPO:0000286) Epicanthus 371 / 7739
19
 (HPO:0000431) Wide nasal bridge 290 / 7739
20
 (HPO:0005474) Decreased calvarial ossification 8 / 7739
21
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
22
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
23
 (HPO:0000377) Abnormality of the pinna 111 / 7739
24
 (HPO:0000369) Low-set ears 372 / 7739
25
 (HPO:0002557) Hypoplastic nipples 33 / 7739
26
 (HPO:0001171) Split hand frequent [HPO] 72 / 7739
27
 (HPO:0002987) Elbow flexion contracture common [HPO] 16826533 IBIS 64 / 7739
28
 (HPO:0002436) Occipital meningocele rare [HPO] 4 / 7739
29
 (HPO:0002984) Hypoplasia of the radius common [HPO] 16826533 IBIS 44 / 7739
30
 (HPO:0006585) Congenital pseudoarthrosis of the clavicle 4 / 7739
31
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
32
 (HPO:0006502) Aplasia/Hypoplasia involving the carpal bones common [HPO] 16826533 IBIS 1 / 7739
33
 (HPO:0004231) Carpal bone aplasia 5 / 7739
34
 (HPO:0009829) Phocomelia common [HPO] 16826533 IBIS 20 / 7739
35
 (HPO:0003041) Humeroradial synostosis common [HPO] 16826533 IBIS 19 / 7739
36
 (HPO:0100257) Ectrodactyly 27 / 7739
37
 (HPO:0001849) Foot oligodactyly hallmark [HPO] 16826533 IBIS 9 / 7739
38
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
39
 (HPO:0009821) Forearm undergrowth 8 / 7739
40
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
41
 (HPO:0002980) Femoral bowing typical [HPO] 16826533 IBIS 36 / 7739
42
 (HPO:0003070) Elbow ankylosis common [HPO] 16826533 IBIS 8 / 7739
43
 (HPO:0009767) Aplasia/Hypoplasia of the phalanges of the hand common [HPO] 16826533 IBIS 5 / 7739
44
 (HPO:0000916) Broad clavicles 3/5 [HPO] 3066902 IBIS 6 / 7739
45
 (HPO:0008363) Aplasia/Hypoplasia of the tarsal bones common [HPO] 16826533 IBIS 2 / 7739
46
 (HPO:0000885) Broad ribs 3/5 [HPO] 3066902 IBIS 21 / 7739
47
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
48
 (HPO:0003063) Abnormality of the humerus Occasional [Orphanet] 36 / 7739
49
 (HPO:0001552) Barrel-shaped chest 2/3 [HPO] 3066902 IBIS 31 / 7739
50
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
51
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
52
 (HPO:0012165) Oligodactyly 18 / 7739
53
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
54
 (HPO:0002827) Hip dislocation occasional [HPO] 16826533 IBIS 94 / 7739
55
 (HPO:0003982) Absent ulna hallmark [HPO] 16826533 IBIS 7 / 7739
56
 (HPO:0000884) Prominent sternum 2/3 [HPO] 3066902 IBIS 11 / 7739
57
 (HPO:0001964) Aplasia/Hypoplasia of metatarsal bones common [HPO] 16826533 IBIS 5 / 7739
58
 (HPO:0001180) Hand oligodactyly hallmark [HPO] 16826533 IBIS 17 / 7739
59
 (HPO:0010173) Aplasia/Hypoplasia of the phalanges of the toes common [HPO] 16826533 IBIS 2 / 7739
60
 (HPO:0010769) Pilonidal sinus 35 / 7739
61
 (HPO:0001773) Short foot hallmark [HPO] 16826533 IBIS 86 / 7739
62
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
63
 (HPO:0002986) Radial bowing common [HPO] 16826533 IBIS 27 / 7739
64
 (HPO:0000768) Pectus carinatum 136 / 7739
65
 (HPO:0009104) Aplasia/Hypoplasia of the pubic bone typical [HPO] 16826533 IBIS 2 / 7739
66
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
67
 (HPO:0008817) Aplastic pubic bones 1 / 7739
68
 (HPO:0005613) Aplasia/hypoplasia of the femur hallmark [HPO] 16826533 IBIS 5 / 7739
69
 (HPO:0002937) Hemivertebrae 41 / 7739
70
 (HPO:0002435) Meningocele Occasional [Orphanet] 23 / 7739
71
 (HPO:0005914) Aplasia/Hypoplasia involving the metacarpal bones common [HPO] 16826533 IBIS 8 / 7739
72
 (HPO:0002990) Fibular aplasia hallmark [HPO] 16826533 IBIS 16 / 7739
73
 (HPO:0010760) Absent toe Very frequent [Orphanet] 15 / 7739
74
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
75
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
76
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
77
 (HPO:0003498) Disproportionate short stature common [HPO] 28 / 7739
78
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
79
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
80
 (HPO:0001798) Anonychia 28 / 7739
81
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
82
 (OMIM) Mobile wrist 1 / 7739
83
 (OMIM) Hypoplastic iliac bone 2 / 7739
84
 (HPO:0400004) Long ear 94 / 7739
85
 (Orphanet:13140) Long/large ear 4 / 7739
86
 (OMIM) Short bowed radii 5 / 7739
87
 (OMIM) Aplastic tibiae 1 / 7739
88
 (OMIM) Asymmetric face 5 / 7739
89
 (OMIM) Aplastic fibulae 1 / 7739
90
 (OMIM) Bowed, short femora 4 / 7739
91
 (OMIM) Aplastic ulnae 1 / 7739
92
 (OMIM) Slender tibiae 1 / 7739
93
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning ...
Clinical Description OMIM In a daughter and son of consanguineous Jordanian parents, Al-Awadi et al. (1985) described a syndrome of severe deficiency of all 4 extremities. Both had hypoplastic femora and absent ulnae and fibulae. Although 'thoracic dystrophy,' pelvic deformity, and ...
Molecular genetics OMIM Woods et al. (2006) considered the WNT7A gene a candidate for causative mutations in the family described by them because of its location in the linkage region and because of its known involvement in limb development. They identified ...