Anophthalmos with Limb Anomalies

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Anophthalmos with Limb Anomalies

MalaCards integrated aliases for Anophthalmos with Limb Anomalies:

Name: Anophthalmos with Limb Anomalies 52
Waardenburg Anophthalmia Syndrome 52
Anophthalmia Waardenburg Syndrome 52
Ophthalmoacromelic Syndrome 52
Anophthalmos-Syndactyly 52


MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases

Summaries for Anophthalmos with Limb Anomalies

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1106 Definition A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly , oligodactyly and/or polydactyly . Epidemiology The prevalence is unknown but more than 35 cases have been reported to date, mainly from consanguineous parents. Clinical description The disease presents at birth with unilateral, or more often, bilateral anophthalmia or microphthalmia and numerous limb anomalies (including synostosis, syndactyly, oligodactyly, polydactyly and long bone hypoplasia). Typically patients have clinical anophthalmia/severe microphthalmia with little/no vision. The most common limb anomalies are synostosis of the fourth and fifth metacarpals, a short 5th finger and only 4 toes bilaterally. Developmental milestones (such as responsive smile) are often delayed and most patients have moderate to severe intellectual deficiencies. Facial features can include flattened midface, sparse eyelashes, short palpebral fissures, high palate and cleft lip . Renal (horseshoe kidney), venous and vertebral anomalies have also been reported in rare cases. Early postnatal/perinatal death has occurred in several cases. Etiology The majority of cases are caused by mutations in the SPARC-related modular calcium binding protein 1 SMOC1 gene (14q24.1) which may be involved in the regulation of bone morphogenetic proteins. The existence of other causative genes is possible but they have not yet been discovered. The FNBP4 gene (11q12.1) was identified in a case with a phenotype similar to OAS but further studies are necessary to conclude if it is indeed causative of OAS. Diagnostic methods Diagnosis is based on the presence of characteristic clinical findings. Computed tomography (CT) scans and magnetic resonance imaging (MRI) can also be helpful in identifying the presence or absence of the globe, optic nerve and extra ocular muscles. Identifying a mutation in the SMOC1 gene confirms diagnosis. Differential diagnosis Differential diagnoses include isolated cryptophthalmia and other forms of syndromic microphthalmia such as microphthalmia, Lenz type, oculofaciocardiodental syndrome and anophthalmia/microphthalmia-esophageal atresia (see these terms). Antenatal diagnosis Prenatal testing via CVS or amniocentesis is possible if the causative mutation in a family has been identified. Ultrasound can also be utilized to identify the limb anomalies associated with OAS. Genetic counseling The disease is inherited autosomal recessively so genetic counseling is possible in affected families and can help in informing parents of the recurrence risk of OAS in subsequent pregnancies. If both parents are carriers there is a 25% risk with each pregnancy of having an affected child. Management and treatment There is no cure for OAS. Treatment for anophthalmia/microphthalmia may be discussed with an oculoplastic surgeon and ocularist. For anophthalmia, expansion of the eyelids, socket and orbital bones is recommended as soon as possible after birth and is done via conformer therapy by an ocularist or by oculoplastic surgery using hydrogel socket expanders followed by orbital implants or dermis-fat grafts. This can help patients with achieving a more typical appearance by preventing facial deformity. Those with some vision (if the microphthalmia is not severe) may benefit from visual aids. Some limb abnormalities may also be surgically corrected to help the patient gain mobility or function, therefore orthopedic evaluation is necessary. All individuals with OAS should receive evaluation by a vision teacher and special education may be necessary. Prognosis Little is known about the prognosis given the rarity but quality of life is usually affected due to intellectual disability , visual impairment and limb anomalies. Visit the Orphanet disease page for more resources.

MalaCards based summary : Anophthalmos with Limb Anomalies, also known as waardenburg anophthalmia syndrome, is related to microphthalmia with limb anomalies and chromosome 2q35 duplication syndrome. Affiliated tissues include bone, kidney and testes.

Related Diseases for Anophthalmos with Limb Anomalies

Diseases related to Anophthalmos with Limb Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 microphthalmia with limb anomalies 11.8
2 chromosome 2q35 duplication syndrome 10.4
3 waardenburg's syndrome 10.4
4 pierre robin syndrome 10.2
5 isolated pierre robin sequence 10.2
6 cleft palate, isolated 10.1
7 coloboma of macula 10.1
8 triiodothyronine receptor auxiliary protein 10.1
9 cryptorchidism, unilateral or bilateral 10.1
10 clubfoot 10.1
11 fryns microphthalmia syndrome 10.1
12 microphthalmia 10.1
13 synostosis 10.1

Graphical network of the top 20 diseases related to Anophthalmos with Limb Anomalies:

Diseases related to Anophthalmos with Limb Anomalies

Symptoms & Phenotypes for Anophthalmos with Limb Anomalies

Drugs & Therapeutics for Anophthalmos with Limb Anomalies

Search Clinical Trials , NIH Clinical Center for Anophthalmos with Limb Anomalies

Genetic Tests for Anophthalmos with Limb Anomalies

Anatomical Context for Anophthalmos with Limb Anomalies

MalaCards organs/tissues related to Anophthalmos with Limb Anomalies:

Bone, Kidney, Testes, Heart

Publications for Anophthalmos with Limb Anomalies

Articles related to Anophthalmos with Limb Anomalies:

# Title Authors PMID Year
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. 61
30586382 2018
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome. 61
28807869 2017
A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome. 61
28085523 2017
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. 61
24357125 2014
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. 61
23703728 2013
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. 61
21750680 2011
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. 61
21194680 2011
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. 61
17375532 2006
Waardenburg anophthalmia syndrome: report and review. 61
10607960 2000
Pulmonary alveolar microlithiasis in children. 61
8598991 1996

Variations for Anophthalmos with Limb Anomalies

Expression for Anophthalmos with Limb Anomalies

Search GEO for disease gene expression data for Anophthalmos with Limb Anomalies.

Pathways for Anophthalmos with Limb Anomalies

GO Terms for Anophthalmos with Limb Anomalies

Sources for Anophthalmos with Limb Anomalies

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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