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intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

ORPHA: 314575

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 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 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome, sourced from HPO and Orphanet clinical annotations.

High palateThin upper lip vermilionBrachycephalyLow-set earsMacrotiaDownslanted palpebral fissuresPectus excavatumCraniosynostosisFrontal bossingPyloric stenosisShort statureDepressed nasal bridgeBilateral cryptorchidismFloppy infant

Classification & Codes

Orphanet Code

ORPHA:314575
intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
OrphanetORPHA:314575
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO