congenital contractures of the limbs and face, hypotonia, and developmental delay

ORPHA: 562528

Contents

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

Overview

human disease

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 congenital contractures of the limbs and face, hypotonia, and developmental delay, sourced from HPO and Orphanet clinical annotations.

Arthrogryposis multiplex congenitaCamptodactylyNeurodevelopmental delayPursed lipsLong philtrumMicrognathiaWide nasal bridgeShort neckStrabismusDownslanted palpebral fissuresDelayed speech and language developmentAdducted thumbUlnar deviation of the hand or of fingers of the handIntellectual disabilityHypotoniaGlobal developmental delayMotor delayFlexion contractureTalipes equinovarusShort columellaGastroesophageal refluxAbnormal pattern of respirationEnlarged narisChin with H-shaped creaseHerniaNarrow mouthHigh palateBrachycephalyMicrocephalyEpicanthusSmooth philtrumBroad foreheadLow-set earsEsotropiaSeizureAtaxiaHypertoniaCalcaneovalgus deformityConstipationRespiratory insufficiencyDroolingScoliosisShort statureFeeding difficultiesMacrocephalyHypertelorismMacrotiaSlender noseMyopiaArachnodactyly

Classification & Codes

Orphanet Code

ORPHA:562528

congenital contractures of the limbs and face, hypotonia, and developmental delay

Orphanet	`ORPHA:562528`
Treatments	0 drug(s)
Symptoms on record	50 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO