Microphthalmia with Limb Anomalies (MLA)

What is Microphthalmia with Limb Anomalies (MLA)?

Microphthalmia is a rare genetic syndrome and development disorder also known as Anophthalmia Waardenburg syndrome. The syndrome affects the development of the hands, feet, and eyes.

This syndrome is also known as:
Anophthalmia-syndactyly; Ophthalmo-acromelic syndrome; Ophthalmoacromelic Syndrome; OAS; Waardenburg Anophthalmia Syndrome

What gene changes cause Microphthalmia with Limb Anomalies (MLA)?

Changes in the SMOC1 gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

What are the main symptoms of Microphthalmia with Limb Anomalies (MLA)?

The main symptoms of the syndrome affect the eyes, hands, and feet of affected individuals. As a congenital disorder, the symptoms are present from birth.

Symptoms associated with abnormalities of the eyes include absent or underdeveloped eyes, or eyes that are very small. These symptoms usually affect both eyes.

Other main symptoms affect the hands and feet. This includes missing fingers and toes, digits that are fused together or in some cases extra fingers and toes.

The syndrome also presents with unique facial features and a cleft lip. Sometimes this also includes a cleft palate too.

Intellectual disability is also common with the syndrome.

Possible clinical traits/features:
Autosomal recessive inheritance, Retrognathia, Single transverse palmar crease, Toe syndactyly, Postaxial foot polydactyly, Posteriorly rotated ears, Postaxial hand polydactyly, Hand polydactyly, Optic atrophy, Foot oligodactyly, Hand oligodactyly, Prominent forehead, Frontal bossing, Talipes equinovarus, Sandal gap, Talipes, Tarsal synostosis, Synostosis of carpal bones, Venous insufficiency, Tibial bowing, Anophthalmia, Cleft upper lip, Clinodactyly of the 5th finger, Downslanted palpebral fissures, Split hand, Cryptorchidism, Deep philtrum, Malar flattening, Flared nostrils, Finger syndactyly, Fibular hypoplasia, Hip dislocation, Micrognathia, Microphthalmia, Intellectual disability, Short nose, Low-set ears, Abnormality of bone mineral density, Abnormal localization of kidney, Abnormal form of the vertebral bodies, Cleft palate, Abnormality of tibia morphology, Abnormal thumb morphology, Abnormal eyelash morphology, Abnormal eyebrow morphology, Abnormality of the metacarpal bones.

How is it diagnosed?

To find out if someone has a diagnosis of Microphthalmia with Limb anomalies (MLA), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Share this syndrome

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more