microcephalic primordial dwarfism due to RTTN deficiency
ORPHA: 468631
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 microcephalic primordial dwarfism due to RTTN deficiency, sourced from HPO and Orphanet clinical annotations.
MicrocephalyAbnormal facial shapeSloping foreheadIntrauterine growth retardationSevere failure to thriveVentriculomegalyPolymicrogyriaPoor speechMultiple joint contracturesSevere short statureSevere intellectual disabilitySevere global developmental delayCryptorchidismHypospadiasUnilateral renal agenesisPelvic kidneyNarrow mouthRetrognathiaMicroretrognathiaAbnormality of the orbital regionSmooth philtrumPosteriorly rotated earsProminent nasal bridgeWide nasal bridgeProptosisOptic disc pallorUpslanted palpebral fissureHypotelorismOptic nerve hypoplasiaMotor stereotypyEczematoid dermatitisSeizureSpasticityDysarthriaCerebellar atrophyAgenesis of corpus callosumHypertoniaPachygyriaCerebellar hypoplasiaLissencephalyCraniosynostosisCerebral atrophyHypoplasia of the corpus callosumDuodenal atresiaSleep disturbanceHyperkinetic movementsAbnormal periventricular white matter morphologyCortical dysplasiaAbnormal renal collecting system morphologyProminent metopic ridge2-5 finger cutaneous syndactylyKnee flexion contractureAnkle flexion contractureLobar holoprosencephalyCerebral hypoplasiaOlivopontocerebellar hypoplasiaPeriventricular heterotopiaAbnormal pyramidal signHypoplasia of the frontal lobesBilateral microphthalmosAttenuation of retinal blood vesselsBilateral sensorineural hearing impairmentAxial hypotoniaSimplified gyral patternThin ear helix4-5 finger cutaneous syndactylySacrococcygeal pilonidal abnormalityHypoplasia of the ponsAbnormal occipital bone morphologyMicrophallusCamptodactyly of fingerArachnoid cystSelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:468631microcephalic primordial dwarfism due to RTTN deficiency
| Orphanet | ORPHA:468631 |
| Treatments | 0 drug(s) |
| Symptoms on record | 73 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO