trichothiodystrophy syndromes
MeSH: D054463ORPHA: 33364
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 trichothiodystrophy syndromes, sourced from HPO and Orphanet clinical annotations.
Global developmental delayCryptorchidismGonadal dysgenesisMicrocephalyRetrognathiaCoarse facial featuresEpicanthusHypertelorismBird-like faciesProtruding earMicrocorneaAstigmatismStrabismusConjunctivitisDevelopmental cataractMyopiaRetinal degenerationEsotropiaHypotelorismMacular degenerationPhotophobiaNystagmusEctropionCarious teethOsteopeniaDry skinEczematoid dermatitisCutaneous photosensitivityKeratoconjunctivitis siccaAbnormality of prenatal development or birthClubbingSpasticityDysarthriaHyporeflexiaHypertoniaGeneralized hypotoniaPartial agenesis of the corpus callosumCraniosynostosisJoint dislocationIntrauterine growth retardationUmbilical herniaConcave nailDysphoniaVentricular septal defectCardiomyopathyRidged nailFragile nailsSplit nailDecreased total neutrophil countAnemiaGait ataxiaIntention tremorVentriculomegalyCerebral cortical atrophyGeneralized-onset seizureSparse scalp hairAlopecia of scalpBrittle hairLow-set nipplesHigh, narrow palateRecurrent infectionsDelayed skeletal maturationMultiple joint contracturesSquamous cell carcinomaThoracic kyphosisDefective DNA repair after ultraviolet radiation damagePanhypogammaglobulinemiaEnamel hypoplasiaRecurrent bronchopulmonary infectionsPeriventricular leukomalaciaGeneralized hyperreflexiaAbnormal pyramidal signCerebral dysmyelinationCongenital exfoliative erythrodermaAbsence of subcutaneous fatPrematurely aged appearanceNumerous pigmented frecklesBilateral microphthalmosIchthyosisAplasia/Hypoplasia of the nailsDystrophic fingernailsBilateral sensorineural hearing impairmentPeripheral neuropathyParaplegia/paraparesisIncreased bone mineral densityReduced social responsivenessIncreased mean corpuscular hemoglobin concentrationTiger tail bandingDiffuse cerebellar atrophyHypoplasia of mandible relative to maxillaBronchoconstriction
Classification & Codes
MeSH Code
D054463Orphanet Code
ORPHA:33364trichothiodystrophy syndromes
| MeSH | D054463 |
| Orphanet | ORPHA:33364 |
| Treatments | 0 drug(s) |
| Symptoms on record | 91 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO