Anophthalmos with Limb Anomalies

Categories: Rare diseases

Aliases & Classifications for Anophthalmos with Limb Anomalies

MalaCards integrated aliases for Anophthalmos with Limb Anomalies:

Name: Anophthalmos with Limb Anomalies 49 28
Waardenburg Anophthalmia Syndrome 49
Anophthalmia Waardenburg Syndrome 49
Ophthalmoacromelic Syndrome 49
Anophthalmos-Syndactyly 49


Summaries for Anophthalmos with Limb Anomalies

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1106Disease definitionMicrophthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.EpidemiologyThe prevalence is unknown but more than 35 cases have been reported to date, mainly from consanguineous parents.Clinical descriptionThe 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.EtiologyThe 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 methodsDiagnosis 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 diagnosisDifferential 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 diagnosisPrenatal 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 counselingThe 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 treatmentThere 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.PrognosisLittle 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. Last updated: 12/6/2013

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. An important gene associated with Anophthalmos with Limb Anomalies is SMOC1 (SPARC Related Modular Calcium Binding 1). Affiliated tissues include testes, kidney and bone.

Related Diseases for Anophthalmos with Limb Anomalies

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

# Related Disease Score Top Affiliating Genes
1 microphthalmia with limb anomalies 11.2
2 chromosome 2q35 duplication syndrome 10.1
3 microphthalmia, isolated 2 10.0

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

Genetic tests related to Anophthalmos with Limb Anomalies:

# Genetic test Affiliating Genes
1 Anophthalmos with Limb Anomalies 28 SMOC1

Anatomical Context for Anophthalmos with Limb Anomalies

MalaCards organs/tissues related to Anophthalmos with Limb Anomalies:

Testes, Kidney, Bone

Publications for Anophthalmos with Limb Anomalies

Articles related to Anophthalmos with Limb Anomalies:

# Title Authors Year
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. ( 17375532 )

Variations for Anophthalmos with Limb Anomalies

ClinVar genetic disease variations for Anophthalmos with Limb Anomalies:

# Gene Variation Type Significance SNP ID Assembly Location
1 SMOC1 NM_022137.5(SMOC1): c.718C> T (p.Gln240Ter) single nucleotide variant Pathogenic rs376672665 GRCh37 Chromosome 14, 70477524: 70477524
2 SMOC1 NM_022137.5(SMOC1): c.664+1G> A single nucleotide variant Pathogenic rs863223317 GRCh38 Chromosome 14, 69994481: 69994481
3 SMOC1 SMOC1, IVS3, G-A, +1 single nucleotide variant Pathogenic
4 SMOC1 NM_001034852.2(SMOC1): c.367T> C (p.Ser123Pro) single nucleotide variant Pathogenic rs1114167455 GRCh37 Chromosome 14, 70420238: 70420238

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
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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