ACD
MCID: ACR099
MIFTS: 27

Acrofacial Dysostosis, Catania Type (ACD)

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Acrofacial Dysostosis, Catania Type

MalaCards integrated aliases for Acrofacial Dysostosis, Catania Type:

Name: Acrofacial Dysostosis, Catania Type 56 12 58
Acrofacial Dysostosis Catania Form 43 71
Opitz Mollica Sorge Syndrome 12 52
Opitz-Caltabiano Syndrome 12 58
Acrofacial Dysostosis Catania Type 52
Afd, Catania Type 56
Afd Catania Type 52
Acd 52

Characteristics:

Orphanet epidemiological data:

58
acrofacial dysostosis, catania type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
acrofacial dysostosis, catania type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060384
OMIM 56 101805
MeSH 43 C538182
SNOMED-CT 67 720419000
MESH via Orphanet 44 C538182
ICD10 via Orphanet 33 Q75.4
UMLS via Orphanet 72 C2931762
Orphanet 58 ORPHA1786
MedGen 41 C2931762
UMLS 71 C2931762

Summaries for Acrofacial Dysostosis, Catania Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1786 Definition A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature , microcephaly , widow's peak, mandibulofacial dysostosis without cleft palate , frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly , mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrofacial Dysostosis, Catania Type, also known as acrofacial dysostosis catania form, is related to alveolar capillary dysplasia with misalignment of pulmonary veins and dyskeratosis congenita, autosomal dominant 6. Affiliated tissues include bone, and related phenotypes are carious teeth and short nose

Disease Ontology : 12 An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.

OMIM : 56 The Catania type of acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability, widow's peak, mandibulofacial dysostosis without cleft palate, ear anomalies, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, dental anomalies, and cryptorchidism and hypospadias in males (Opitz et al., 1993; Wulfsberg et al., 1996). (101805)

Related Diseases for Acrofacial Dysostosis, Catania Type

Diseases related to Acrofacial Dysostosis, Catania Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 alveolar capillary dysplasia with misalignment of pulmonary veins 12.4
2 dyskeratosis congenita, autosomal dominant 6 12.2
3 dyskeratosis congenita 12.1
4 alopecia-contractures-dwarfism mental retardation syndrome 12.1
5 amyloidosis, primary localized cutaneous, 3 12.0
6 hoyeraal hreidarsson syndrome 12.0
7 allergic contact dermatitis 11.8
8 melanoma, cutaneous malignant 1 11.6
9 aplastic anemia 11.6
10 alopecia-contractures-dwarfism-intellectual disability syndrome 11.5
11 corneal dystrophy, avellino type 11.4
12 cone-rod dystrophy 2 11.3
13 osteoporosis 11.3
14 dyskeratosis congenita autosomal dominant 11.3
15 dyskeratosis congenita autosomal recessive 11.3
16 acute cholinergic dysautonomia 11.2
17 campomelic dysplasia 11.2
18 lactase deficiency, congenital 11.1
19 revesz syndrome 11.1
20 febrile seizures, familial, 4 11.1
21 retinitis pigmentosa 50 11.1
22 hereditary lymphedema 11.1
23 hereditary lymphedema i 11.1
24 frontometaphyseal dysplasia 11.1
25 scleromalacia perforans 11.1
26 cardiac arrest 10.4
27 contact dermatitis 10.4
28 ventricular fibrillation, paroxysmal familial, 1 10.3
29 dermatitis 10.3
30 ductal carcinoma in situ 10.2
31 in situ carcinoma 10.2
32 hydronephrosis 10.2
33 alopecia 10.2
34 breast cancer 10.1
35 renal cell carcinoma, nonpapillary 10.1
36 ocular motor apraxia 10.1
37 hepatic coma 10.1
38 melanoma 10.1
39 spondylosis 10.1
40 iron metabolism disease 10.1
41 rapidly involuting congenital hemangioma 10.1
42 acquired cystic disease-associated renal cell carcinoma 10.1
43 fibrosis of extraocular muscles, congenital, 1 9.9
44 hair whorl 9.9
45 spinal muscular atrophy with progressive myoclonic epilepsy 9.9
46 polykaryocytosis inducer 9.9
47 split-hand/foot malformation 1 9.9
48 glucocorticoid deficiency 1 9.9
49 farber lipogranulomatosis 9.9
50 hypoadrenocorticism, familial 9.9

Graphical network of the top 20 diseases related to Acrofacial Dysostosis, Catania Type:



Diseases related to Acrofacial Dysostosis, Catania Type

Symptoms & Phenotypes for Acrofacial Dysostosis, Catania Type

Human phenotypes related to Acrofacial Dysostosis, Catania Type:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
9 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
10 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
11 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
12 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
13 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
14 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
15 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
16 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
17 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
18 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
19 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
20 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
21 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
22 abnormal hair pattern 58 31 frequent (33%) Frequent (79-30%) HP:0010720
23 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
24 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
25 coarse hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002208
26 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
27 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
28 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
29 reduced number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0009804
30 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
31 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
32 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
33 facial cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0002006
34 abnormality of the dentition 58 Very frequent (99-80%)
35 abnormal dermatoglyphics 58 Very frequent (99-80%)
36 single transverse palmar crease 31 HP:0000954
37 widow's peak 31 HP:0000349
38 mandibulofacial dysostosis 31 HP:0005321

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
carious teeth

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Skeletal Hands:
single transverse palmar crease
short hands
interdigital webbing

Growth Height:
short stature, postnatal

Head And Neck Mouth:
mandibulofacial dysostosis without cleft palate

Skin Nails Hair Skin:
low total ridge count

Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation

Skin Nails Hair Hair:
widow's peak

Head And Neck Ears:
preauricular fistulas

Skeletal Spine:
spina bifida occulta of c1

Clinical features from OMIM:

101805

Drugs & Therapeutics for Acrofacial Dysostosis, Catania Type

Search Clinical Trials , NIH Clinical Center for Acrofacial Dysostosis, Catania Type

Cochrane evidence based reviews: acrofacial dysostosis catania form

Genetic Tests for Acrofacial Dysostosis, Catania Type

Anatomical Context for Acrofacial Dysostosis, Catania Type

MalaCards organs/tissues related to Acrofacial Dysostosis, Catania Type:

40
Bone

Publications for Acrofacial Dysostosis, Catania Type

Articles related to Acrofacial Dysostosis, Catania Type:

# Title Authors PMID Year
1
Broadening the spectrum of Catania brachydactylous type of acrofacial dysostoses. 56
25945454 2015
2
Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. 56
8826434 1996
3
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. 56
8266994 1993

Variations for Acrofacial Dysostosis, Catania Type

Expression for Acrofacial Dysostosis, Catania Type

Search GEO for disease gene expression data for Acrofacial Dysostosis, Catania Type.

Pathways for Acrofacial Dysostosis, Catania Type

GO Terms for Acrofacial Dysostosis, Catania Type

Sources for Acrofacial Dysostosis, Catania Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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