BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 85
OrphanetNr:
OMIM Id: 609945
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0000060) Clitoral hypoplasia 9 / 7739
3
 (HPO:0000085) Horseshoe kidney 39 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000054) Micropenis 257 / 7739
6
 (HPO:0000048) Bifid scrotum 36 / 7739
7
 (HPO:0000218) High palate 356 / 7739
8
 (HPO:0002697) Parietal foramina 12 / 7739
9
 (HPO:0003196) Short nose 264 / 7739
10
 (HPO:0000252) Microcephaly 832 / 7739
11
 (HPO:0000316) Hypertelorism 644 / 7739
12
 (HPO:0000581) Blepharophimosis 197 / 7739
13
 (HPO:0000431) Wide nasal bridge 290 / 7739
14
 (HPO:0000286) Epicanthus 371 / 7739
15
 (HPO:0000473) Torticollis 42 / 7739
16
 (HPO:0000470) Short neck 345 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0000233) Thin vermilion border 124 / 7739
19
 (HPO:0000568) Microphthalmia 183 / 7739
20
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
21
 (HPO:0001363) Craniosynostosis 132 / 7739
22
 (HPO:0000508) Ptosis 459 / 7739
23
 (HPO:0000378) Cupped ear 34 / 7739
24
 (HPO:0000365) Hearing impairment 539 / 7739
25
 (HPO:0000396) Overfolded helix 21 / 7739
26
 (HPO:0000384) Preauricular skin tag 62 / 7739
27
 (HPO:0001263) Global developmental delay 853 / 7739
28
 (HPO:0003083) Dislocated radial head 35 / 7739
29
 (HPO:0010561) Undulate ribs 2 / 7739
30
 (HPO:0004058) Hand monodactyly 8 / 7739
31
 (HPO:0001171) Split hand 72 / 7739
32
 (HPO:0001831) Short toe 52 / 7739
33
 (HPO:0005613) Aplasia/hypoplasia of the femur 5 / 7739
34
 (HPO:0010743) Short metatarsal 56 / 7739
35
 (HPO:0009760) Antecubital pterygium 5 / 7739
36
 (HPO:0008362) Aplasia/Hypoplasia of the hallux 4 / 7739
37
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
38
 (HPO:0006507) Aplasia/hypoplasia of the humerus 2 / 7739
39
 (HPO:0005772) Aplasia/Hypoplasia of the tibia 2 / 7739
40
 (HPO:0001841) Preaxial foot polydactyly 24 / 7739
41
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
42
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
43
 (HPO:0009556) Absent tibia 9 / 7739
44
 (HPO:0010049) Short metacarpal 99 / 7739
45
 (HPO:0006380) Knee flexion contracture 56 / 7739
46
 (HPO:0003182) Shallow acetabular fossae 10 / 7739
47
 (HPO:0000894) Short clavicles 30 / 7739
48
 (HPO:0002869) Flared iliac wings 20 / 7739
49
 (HPO:0008830) Hypoplastic pubic rami 1 / 7739
50
 (HPO:0002827) Hip dislocation 94 / 7739
51
 (HPO:0003175) Hypoplastic ischia 12 / 7739
52
 (HPO:0001770) Toe syndactyly 149 / 7739
53
 (HPO:0001159) Syndactyly 140 / 7739
54
 (HPO:0001371) Flexion contracture 220 / 7739
55
 (HPO:0009473) Joint contracture of the hand 84 / 7739
56
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
57
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
58
 (HPO:0011304) Broad thumb 39 / 7739
59
 (HPO:0004987) Mesomelic leg shortening 3 / 7739
60
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
61
 (HPO:0000767) Pectus excavatum 244 / 7739
62
 (HPO:0001839) Split foot 28 / 7739
63
 (HPO:0009623) Proximal placement of thumb 50 / 7739
64
 (HPO:0001840) Metatarsus adductus 49 / 7739
65
 (HPO:0003038) Fibular hypoplasia 30 / 7739
66
 (HPO:0001059) Pterygium 16 / 7739
67
 (HPO:0001762) Talipes equinovarus 309 / 7739
68
 (HPO:0009803) Short phalanx of finger 79 / 7739
69
 (HPO:0003065) Patellar hypoplasia 8 / 7739
70
 (HPO:0009756) Popliteal pterygium 9 / 7739
71
 (HPO:0000023) Inguinal hernia 181 / 7739
72
 (HPO:0008386) Aplasia/Hypoplasia of the nails 4 / 7739
73
 (HPO:0010781) Skin dimples 5 / 7739
74
 (HPO:0007385) Aplasia cutis congenita of scalp 10 / 7739
75
 (HPO:0001631) Atria septal defect 274 / 7739
76
 (HPO:0005160) Total anomalous pulmonary venous return 4 / 7739
77
 (OMIM) Branchial pits 1 / 7739
78
 (OMIM) Vertical ischia 2 / 7739
79
 (OMIM) Preaxial polydactyly with central gap 1 / 7739
80
 (OMIM) Prominent sacrum 1 / 7739
81
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
82
 (OMIM) Cleft lobules 1 / 7739
83
 (MedDRA:10072883) Brachydactyly 153 / 7739
84
 (OMIM) Aberrant skin dimples (elbows and knees) 1 / 7739
85
 (OMIM) Absent labia majora 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baraitser et al. (1997) reported 2 unrelated children with an unusual combination of limb anomalies, facial dysmorphism, and genital hypoplasia. The limb defects consisted mainly of very short fingers with absent nails on some digits, and in the ...
Molecular genetics OMIM Because some mouse models affecting limb development are caused by mutations in Alx4 (605420) and related members of the paired homeodomain class, Wechsler et al. (2004) considered the human homologs to be candidate genes for this disorder. Sequencing ...