What is Microphthalmia with Limb Anomalies (MLA)?
Microphthalmia is a rare genetic syndrome and developmental 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.
