Antley-Bixler syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES
TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
ABS2
Number of Symptoms 58
OrphanetNr: 83
OMIM Id: 207410
ICD-10: Q87.0
UMLs: C0265307
MeSH: C537780
MedDRA:
Snomed: 62964007

Prevalence, inheritance and age of onset:

Prevalence: 34 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000148) Vaginal atresia 16 / 7739
2
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
3
 (HPO:0000063) Fused labia minora 3 / 7739
4
 (HPO:0012210) Abnormal renal morphology 18 / 7739
5
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
6
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
7
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
8
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
9
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
10
 (HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
11
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
12
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
13
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
14
 (HPO:0011800) Midface retrusion 221 / 7739
15
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
16
 (HPO:0009891) Underdeveloped supraorbital ridges Occasional [Orphanet] 36 / 7739
17
 (HPO:0000452) Choanal stenosis 23 / 7739
18
 (HPO:0000260) Wide anterior fontanel 55 / 7739
19
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
20
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
21
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
22
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
23
 (HPO:0005280) Depressed nasal bridge 381 / 7739
24
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
25
 (HPO:0000262) Turricephaly Occasional [Orphanet] 38 / 7739
26
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
27
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
28
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
29
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
30
 (HPO:0000377) Abnormality of the pinna 111 / 7739
31
 (HPO:0001249) Intellectual disability 1089 / 7739
32
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
33
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
34
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
35
 (HPO:0012385) Camptodactyly 113 / 7739
36
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
37
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
38
 (HPO:0003041) Humeroradial synostosis Very frequent [Orphanet] 19 / 7739
39
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
40
 (HPO:0002980) Femoral bowing 36 / 7739
41
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
42
 (HPO:0003275) Narrow pelvis bone 8 / 7739
43
 (HPO:0001371) Flexion contracture 220 / 7739
44
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
45
 (HPO:0001838) Rocker bottom foot 85 / 7739
46
 (HPO:0001166) Arachnodactyly 62 / 7739
47
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
48
 (HPO:0003031) Ulnar bowing 16 / 7739
49
 (HPO:0001631) Atria septal defect 274 / 7739
50
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
51
 (HPO:0002781) Upper airway obstruction 7 / 7739
52
 (OMIM) Choanal atresia or stenosis 3 / 7739
53
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
54
 (OMIM) Mental retardation, variable 7 / 7739
55
 (OMIM) Craniosynostosis, coronal and lambdoidal 1 / 7739
56
 (HPO:0000238) Hydrocephalus 278 / 7739
57
 (OMIM) Radiohumeral synostosis 3 / 7739
58
 (OMIM) Neonatal femoral fractures 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, including midface hypoplasia, choanal stenosis or atresia, and multiple ...
Diagnosis OMIM McGlaughlin et al. (2010) noted that craniosynostosis and radiohumeral synostosis present from the perinatal period are generally considered to be the minimum criteria for a diagnosis of Antley-Bixler syndrome.

- Prenatal Diagnosis

LeHeup et ...
Clinical Description OMIM Antley and Bixler (1975) described a child with 'trapezoidocephaly,' midface hypoplasia, humeroradial synostosis, bowing of femora, fractures and other abnormalities. McGlaughlin et al. (2010) noted that Lacheretz et al. (1974) had reported features suggestive of the same disorder ...
Molecular genetics OMIM Chun et al. (1998) reported a patient with clinical manifestations that they considered consistent with Antley-Bixler syndrome who carried an ser351-to-cys (S351C; 176943.0024) mutation on one allele of the FGFR2 gene. Chun et al. (1998) suggested that the ...