ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS

General Information (adopted from Orphanet):

Synonyms, Signs: ABS1
Number of Symptoms 64
OrphanetNr:
OMIM Id: 201750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000047) Hypospadias 250 / 7739
3
(HPO:0000041) Chordee 11 / 7739
4
(HPO:0001586) Vesicovaginal fistula 4 / 7739
5
(HPO:0000057) Clitoromegaly 30 / 7739
6
(HPO:0000062) Ambiguous genitalia Occasional [HPO:probinson] 74 / 7739
7
(HPO:0000066) Labial hypoplasia 10 / 7739
8
(HPO:0000054) Micropenis 257 / 7739
9
(HPO:0000085) Horseshoe kidney 39 / 7739
10
(HPO:0000046) Scrotal hypoplasia 54 / 7739
11
(HPO:0000147) Polycystic ovaries 18 / 7739
12
(HPO:0000048) Bifid scrotum 36 / 7739
13
(HPO:0000248) Brachycephaly 222 / 7739
14
(HPO:0000453) Choanal atresia 76 / 7739
15
(HPO:0005280) Depressed nasal bridge 381 / 7739
16
(HPO:0000252) Microcephaly 832 / 7739
17
(HPO:0002007) Frontal bossing 366 / 7739
18
(HPO:0002676) Cloverleaf skull 14 / 7739
19
(HPO:0011800) Midface retrusion 221 / 7739
20
(HPO:0000316) Hypertelorism 644 / 7739
21
(HPO:0000520) Proptosis 192 / 7739
22
(HPO:0001363) Craniosynostosis 132 / 7739
23
(HPO:0000272) Malar flattening 277 / 7739
24
(HPO:0000452) Choanal stenosis 23 / 7739
25
(HPO:0000377) Abnormality of the pinna 111 / 7739
26
(HPO:0000405) Conductive hearing impairment 164 / 7739
27
(HPO:0000818) Abnormality of the endocrine system 26 / 7739
28
(HPO:0003041) Humeroradial synostosis 19 / 7739
29
(HPO:0002980) Femoral bowing 36 / 7739
30
(HPO:0003031) Ulnar bowing 16 / 7739
31
(HPO:0001838) Rocker bottom foot 85 / 7739
32
(HPO:0009473) Joint contracture of the hand 84 / 7739
33
(HPO:0001166) Arachnodactyly 62 / 7739
34
(HPO:0002937) Hemivertebrae 41 / 7739
35
(HPO:0009702) Carpal synostosis 26 / 7739
36
(HPO:0012385) Camptodactyly 113 / 7739
37
(HPO:0002650) Scoliosis 705 / 7739
38
(HPO:0002974) Radioulnar synostosis 52 / 7739
39
(HPO:0008368) Tarsal synostosis 21 / 7739
40
(HPO:0008073) Low maternal serum estriol 1 / 7739
41
(HPO:0008072) Maternal virilization in pregnancy 1 / 7739
42
(HPO:0001562) Oligohydramnios 75 / 7739
43
(HPO:0001194) Abnormalities of placenta or umbilical cord 3 / 7739
44
(HPO:0001438) Abnormality of the abdomen 28 / 7739
45
(HPO:0001545) Anteriorly placed anus 55 / 7739
46
(HPO:0001518) Small for gestational age 107 / 7739
47
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
48
(HPO:0002780) Bronchomalacia 7 / 7739
49
(HPO:0001601) Laryngomalacia 61 / 7739
50
(OMIM) Radiohumeral synostosis 3 / 7739
51
(OMIM) Elevated progesterone 1 / 7739
52
(OMIM) Adrenal crisis 1 / 7739
53
(OMIM) Elbow synostosis 1 / 7739
54
(OMIM) Mildly elevated ACTH 1 / 7739
55
(OMIM) Blunted cortisol response to adrenocorticotropic hormone (ACTH) 1 / 7739
56
(OMIM) Elevated pregnenolone 1 / 7739
57
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
58
(HPO:0002308) Arnold-Chiari malformation 42 / 7739
59
(OMIM) Temporal bossing 2 / 7739
60
(OMIM) Normal baseline cortisol 1 / 7739
61
(OMIM) Elevated 17-hydroxyprogesterone 1 / 7739
62
(OMIM) Single urogenital orifice 1 / 7739
63
(OMIM) Femoral fractures 1 / 7739
64
(OMIM) Fused labia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, ...
Clinical Description OMIM Miller (2008) considered the phenotypic overlap between ABS caused by POR mutations and ABS caused by FGFR2 mutations (ABS2; 207410) impressive. Aside from genital anomalies and disordered pattern of steroidogenesis present in patients with POR mutations, no dysmorphic ...
Molecular genetics OMIM In individuals with disordered steroidogenesis with bony features of Antley-Bixler syndrome, including the patient reported by Kelley et al. (2002), Fluck et al. (2004) demonstrated mutations in the POR gene (e.g., 124015.0001). Fluck et al. (2004) proposed that ...