palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

ORPHA: 477993

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 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal palate morphologyThin upper lip vermilionWide nasal bridgeStrabismusDownslanted palpebral fissuresExotropiaWidely spaced teethDelayed speech and language developmentBrachydactylyHypotoniaGlobal developmental delayAbnormality of canineProminent foreheadDelayed ability to walkCryptorchidismChordeeHypospadiasMacrocephalyHypertelorismAnteverted naresBlue scleraeOculomotor apraxiaSynophrysHypertrichosisTapered fingerBilateral ptosisPatent foramen ovaleHypoplastic toenailsHypoplasia of the corpus callosumClonusSparse scalp hairSupernumerary nippleClinodactyly of the 5th fingerLower limb hypertoniaShort thumbHigh anterior hairlineNarrow nasal tipEnlarged cerebellumCerebral white matter hypoplasiaDelayed myelinationColpocephalySparse eyebrow

Classification & Codes

Orphanet Code

ORPHA:477993
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphanetORPHA:477993
Treatments0 drug(s)
Symptoms on record42 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO