GAPO syndrome

ORPHA: 2067

Contents

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

Overview

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

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 GAPO syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityHypogonadismAmenorrheaHearing impairmentChoanal atresiaMyopiaNystagmusOptic atrophyNephrolithiasisOligozoospermiaHemangiomaHypopigmented skin patchesGrowth delayAsymmetry of the thoraxIncreased intracranial pressureAtherosclerosisDecreased skull ossificationDysmenorrheaEverted lower lip vermilionHypertelorismBroad foreheadLong philtrumMicrognathiaHigh foreheadLow-set earsAnteverted naresSparse eyelashesDelayed eruption of teethHyperextensible skinAlopeciaFrontal bossingEarly baldingDelayed skeletal maturationShort statureDepressed nasal bridgePrematurely aged appearanceUnderdeveloped supraorbital ridgesThick nasal alaeMidface retrusionSparse eyebrowPalpebral edemaAbnormal palate morphologyMandibular prognathiaGlaucomaVisual impairmentKeratoconusAbnormal thorax morphologyAbnormal clavicle morphologyAbnormal metaphysis morphologyUmbilical herniaAbnormal pelvic girdle bone morphologyAbnormal form of the vertebral bodiesSkin tagsAbnormal cerebral vascular morphology

Classification & Codes

Orphanet Code

ORPHA:2067

GAPO syndrome

Orphanet	`ORPHA:2067`
Treatments	0 drug(s)
Symptoms on record	54 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO