Acrofacial dysostosis, Catania type

General Information (adopted from Orphanet):

Synonyms, Signs: AFD, CATANIA TYPE
Opitz-Caltabiano syndrome
Number of Symptoms 34
OrphanetNr: 1786
OMIM Id: 101805
ICD-10: Q75.4
UMLs: C2931762
MeSH: C538182
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal dominant
X-linked dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrofacial dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
5
 (HPO:0009796) Branchial cyst Frequent [Orphanet] 32 / 7739
6
 (HPO:0002006) Facial cleft Occasional [Orphanet] 25 / 7739
7
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
8
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
9
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
10
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
11
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
12
 (HPO:0009553) Abnormality of the hairline Frequent [Orphanet] 30 / 7739
13
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
14
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
15
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
16
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
17
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
18
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
19
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
20
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
21
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
22
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
23
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
24
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
25
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
26
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
27
 (HPO:0001622) Premature birth Occasional [Orphanet] 100 / 7739
28
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
29
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
30
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
31
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
32
 (HPO:0002208) Coarse hair Occasional [Orphanet] 58 / 7739
33
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: