ACD
MCID: ACR099
MIFTS: 26

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 57 12 59
Acrofacial Dysostosis Catania Form 44 72
Opitz Mollica Sorge Syndrome 12 53
Opitz-Caltabiano Syndrome 12 59
Acrofacial Dysostosis Catania Type 53
Afd, Catania Type 57
Afd Catania Type 53
Acd 53

Characteristics:

Orphanet epidemiological data:

59
acrofacial dysostosis, catania type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
acrofacial dysostosis, catania type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060384
OMIM 57 101805
MeSH 44 C538182
MESH via Orphanet 45 C538182
ICD10 via Orphanet 34 Q75.4
UMLS via Orphanet 73 C2931762
Orphanet 59 ORPHA1786
MedGen 42 C2931762
UMLS 72 C2931762

Summaries for Acrofacial Dysostosis, Catania Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1786DefinitionA 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 finger syndactyly and carious teeth

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 : 57 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 82)
# Related Disease Score Top Affiliating Genes
1 alveolar capillary dysplasia with misalignment of pulmonary veins 12.3
2 dyskeratosis congenita, autosomal dominant 6 12.3
3 dyskeratosis congenita 12.2
4 alopecia-contractures-dwarfism mental retardation syndrome 12.1
5 amyloidosis, primary localized cutaneous, 3 12.0
6 alopecia-contractures-dwarfism-intellectual disability syndrome 12.0
7 alveolar capillary dysplasia 11.8
8 allergic contact dermatitis 11.8
9 hoyeraal hreidarsson syndrome 11.7
10 melanoma, cutaneous malignant 1 11.5
11 dyskeratosis congenita autosomal dominant 11.4
12 dyskeratosis congenita autosomal recessive 11.4
13 corneal dystrophy, avellino type 11.4
14 corneal dystrophy, reis-bucklers type 11.3
15 corneal dystrophy, congenital stromal 11.3
16 drug-induced lupus erythematosus 11.3
17 hereditary lymphedema 11.3
18 hereditary lymphedema i 11.3
19 acute cholinergic dysautonomia 11.2
20 campomelic dysplasia 11.2
21 cardiac arrest 10.4
22 contact dermatitis 10.4
23 ventricular fibrillation, paroxysmal familial, 1 10.3
24 ductal carcinoma in situ 10.3
25 dermatitis 10.3
26 in situ carcinoma 10.3
27 hydronephrosis 10.2
28 alopecia 10.2
29 breast cancer 10.1
30 renal cell carcinoma, nonpapillary 10.1
31 ocular motor apraxia 10.1
32 hepatic coma 10.1
33 spondylosis 10.1
34 iron metabolism disease 10.1
35 rapidly involuting congenital hemangioma 10.1
36 acquired cystic disease-associated renal cell carcinoma 10.1
37 hair whorl 10.0
38 polykaryocytosis inducer 10.0
39 split-hand/foot malformation 1 10.0
40 glucocorticoid deficiency 1 10.0
41 hypoadrenocorticism, familial 10.0
42 proteasome-associated autoinflammatory syndrome 1 10.0
43 46,xy sex reversal 2 10.0
44 adrenal hypoplasia, congenital 10.0
45 sacral defect with anterior meningocele 10.0
46 dermatitis, atopic 10.0
47 polydactyly 10.0
48 aplastic anemia 10.0
49 leukemia, acute lymphoblastic 10.0
50 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.0

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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
2 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
3 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
4 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
8 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
9 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
10 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
11 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
12 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
13 abnormal palate morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000174
14 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
15 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669
16 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
17 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
18 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
19 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
20 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
21 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
22 abnormal hair pattern 59 32 frequent (33%) Frequent (79-30%) HP:0010720
23 preauricular pit 59 32 frequent (33%) Frequent (79-30%) HP:0004467
24 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
25 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
26 coarse hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002208
27 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
28 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
29 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
30 reduced number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0009804
31 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
32 premature birth 59 32 occasional (7.5%) Occasional (29-5%) HP:0001622
33 facial cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0002006
34 abnormality of the dentition 59 Very frequent (99-80%)
35 abnormal dermatoglyphics 59 Very frequent (99-80%)
36 cheekbone underdevelopment 59 Very frequent (99-80%)
37 single transverse palmar crease 32 HP:0000954
38 widow's peak 32 HP:0000349

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8
25945454 2015
2
Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. 8
8826434 1996
3
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....