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hypertelorism, microtia, facial clefting syndrome

MeSH: C537632ORPHA: 2213

Contents

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

Overview

autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with hypertelorism, microtia, facial clefting syndrome, sourced from HPO and Orphanet clinical annotations.

Median cleft palateMicrocephalyHypertelorismAtresia of the external auditory canalMicrotiaHorseshoe kidneyConductive hearing impairmentIntellectual disabilityGlobal developmental delaySpecific learning disabilityThenar muscle atrophySevere short statureCrossed fused renal ectopiaBifid nasal tipBifid nose

Classification & Codes

MeSH Code

C537632

Orphanet Code

ORPHA:2213
hypertelorism, microtia, facial clefting syndrome
MeSHC537632
OrphanetORPHA:2213
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO