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ATR-16 syndrome

MeSH: C563050ORPHA: 98791

Contents

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

Overview

alpha thalassemia that has material basis in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others

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 ATR-16 syndrome, sourced from HPO and Orphanet clinical annotations.

CryptorchidismHypospadiasHigh palateMicrocephalyMalar flatteningRetrognathiaEpicanthusHypertelorismBroad foreheadMicrognathiaHigh foreheadWide nasal bridgeShort neckDownslanted palpebral fissuresPectus carinatumBruising susceptibilityIntellectual disabilityHypotoniaFlexion contractureFailure to thriveTalipes equinovarusShort toeMicrocytic anemiaFrontal bossingAbnormal speech patternShort statureUnderdeveloped supraorbital ridgesAplasia/Hypoplasia of the earlobesHbH hemoglobinFatigueAplasia/Hypoplasia of the eyebrowPosteriorly rotated ears

Classification & Codes

MeSH Code

C563050

Orphanet Code

ORPHA:98791
ATR-16 syndrome
MeSHC563050
OrphanetORPHA:98791
Treatments0 drug(s)
Symptoms on record32 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO