Fine-Lubinsky syndrome

MeSH: C537933ORPHA: 1272

Contents

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

Overview

Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies

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 Fine-Lubinsky syndrome, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilityGlobal developmental delayPostnatal growth retardationFlat faceCryptorchidismNarrow mouthCleft palateThin upper lip vermilionHydrocephalusLarge fontanellesBrachycephalyHypertelorismLong philtrumHigh foreheadPosteriorly rotated earsLow-set earsSensorineural hearing impairmentDownslanted palpebral fissuresVisual impairmentCataractDevelopmental cataractUpslanted palpebral fissureShallow orbitsOligodontiaTapered fingerSeizurePlagiocephalyLimitation of joint mobilityBilateral ptosisRocker bottom footVentriculomegalyCerebral cortical atrophySparse scalp hairEEG abnormalityShort noseClinodactyly of the 5th fingerShort statureDepressed nasal bridgeProminent metopic ridgeChiari type I malformationMicrotiaFloppy infantAsymmetric crying faceCamptodactylyInguinal herniaProteinuriaDelayed cranial suture closureStenosis of the external auditory canalMegalocorneaGlaucomaLong eyelashesAbnormal thorax morphologyCongenital diaphragmatic herniaCraniosynostosisPatent ductus arteriosusPericardial effusionPericarditisHypoplasia of the corpus callosumFebrile seizure (within the age range of 3 months to 6 years)ScoliosisJ-shaped sella turcicaRadioulnar synostosisBreast hypoplasiaSupernumerary ribsReduced arm spanAbnormal cardiovascular system morphology

Classification & Codes

MeSH Code

C537933

Orphanet Code

ORPHA:1272

Fine-Lubinsky syndrome

MeSH	`C537933`
Orphanet	`ORPHA:1272`
Treatments	0 drug(s)
Symptoms on record	66 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO