microphthalmia with limb anomalies

MeSH: C537769ORPHA: 11063 Treatments Available

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Microphthalmia 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

Available Treatments (3)

Drug	Form	Status	Countries	Lead Time
Growth hormone (somatropin) Orphan Cold Chain	Subcutaneous injection, 5mg, 12mg cartridges	FDA Approved	8	14d
Multivitamin with Calcium and Vitamin D	Oral tablets, chewable tablets, liquid suspension	OTC - Multiple jurisdictions	9	1d
Occupational and Physical Therapy Support	Therapeutic sessions, adaptive devices, orthotics	Standard of Care	9	14d

Clinical Presentation

Signs and symptoms associated with microphthalmia with limb anomalies, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityFinger aplasiaPosteriorly rotated earsHypoplasia of the maxillaAbnormal eyebrow morphologyMicrophthalmiaBlepharophimosisToe syndactylySandal gapFrontal bossingAbnormality of the lower limbAbnormality of the upper limbSynostosis of carpal bonesAbnormal metacarpal morphologyFinger syndactylyProminent foreheadTrue anophthalmiaSynostosis of jointsCleft upper lipOptic atrophyPostaxial hand polydactylyAbnormal thumb morphologyCamptodactyly of 2nd-5th fingersFailure to thriveFoot oligodactylyModerate intellectual disabilityTibial bowingShort long boneFibular hypoplasiaAbnormal form of the vertebral bodiesClinodactyly of the 5th fingerShort statureDepressed nasal bridgeShort tibiaBilateral single transverse palmar creasesTarsal synostosisLarge earlobeSevere intellectual disabilityCryptorchidismHorseshoe kidneyCleft palateHigh palateThin vermilion borderHydrocephalusLong philtrumMicrognathiaMacrodontiaTalipes equinovarusPostaxial foot polydactylyArrhinencephalyHip dislocationElbow dislocationVenous insufficiencyBowing of the long bonesHypoplasia of the premaxillaBroad thumb

Classification & Codes

MeSH Code

C537769

Orphanet Code

ORPHA:1106

microphthalmia with limb anomalies

MeSH	`C537769`
Orphanet	`ORPHA:1106`
Treatments	3 drug(s)
Symptoms on record	56 signs
Status	published

Treatment Summary

Growth hormone (somatropin)· Orphan Multivitamin with Calcium and Vitamin D Occupational and Physical Therapy Support

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO