Abruzzo-Erickson syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CHARGE-LIKE SYNDROME, X-LINKED
ABERS
Cleft palate - coloboma - deafness
Number of Symptoms 32
OrphanetNr: 921
OMIM Id: 302905
ICD-10: Q87.8
UMLs: C1844862
MeSH: C535559
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
3
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
4
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
5
 (HPO:0010751) Chin dimple Occasional [Orphanet] 16 / 7739
6
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
7
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
8
 (HPO:0006482) Abnormality of dental morphology Occasional [Orphanet] 81 / 7739
9
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
12
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
13
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
14
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
15
 (HPO:0000589) Coloboma 47 / 7739
16
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
17
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
18
 (HPO:0000411) Protruding ear 140 / 7739
19
 (HPO:0000400) Macrotia 108 / 7739
20
 (HPO:0000365) Hearing impairment 539 / 7739
21
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
22
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
23
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
24
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
25
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Occasional [Orphanet] 69 / 7739
26
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
27
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
28
 (HPO:0001417) X-linked inheritance 173 / 7739
29
 (OMIM) Palatal rugosity 1 / 7739
30
 (OMIM) Wide-spaced second and third fingers 1 / 7739
31
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
32
 (OMIM) Flat malar configuration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Abruzzo and Erickson (1977) reported an apparently 'new' syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis expressed variably in 2 brothers, their mother, and a maternal uncle. Davenport et al. (1986) and Metlay et ...
Molecular genetics OMIM In the family with an X-linked CHARGE-like syndrome that was originally reported by Abruzzo and Erickson (1977), Pauws et al. (2013) analyzed the candidate gene TBX22 and identified an intronic sequence variant (300307.0011) that segregated with the disease ...