Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

disorder

SNOMED 719944006CUI C1848745

Overview

Trichomegaly with retina pigmentary degeneration and dwarfism syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cerebellar tremor

Always present (100%)HP:0002080

Chorioretinal atrophy

Always present (100%)HP:0000533

Decreased body height

Always present (100%)HP:0004322

Difficulty articulating speech

Always present (100%)HP:0001260

Hypoplasia of the pituitary gland

Always present (100%)HP:0010627

Hyporeflexia

Always present (100%)HP:0001265

Inability to coordinate movements when walking

Always present (100%)HP:0002066

Involuntary, rapid, rhythmic eye movements

Always present (100%)HP:0000639

Pes cavus

Always present (100%)HP:0001761

Reduced circulating growth hormone concentration

Always present (100%)HP:0034323

Reduced circulating prolactin concentration

Always present (100%)HP:0008202

Severe myopia

Always present (100%)HP:0011003

Unsteady walk

Always present (100%)HP:0002317

Vermian atrophy

Always present (100%)HP:0006855

Retinal degeneration

Very frequent (80-99%)HP:0000546

Ataxia

Frequent (30-79%)HP:0001251

Decreased activity of gonads

Frequent (30-79%)HP:0000135

Decreased hair growth

Frequent (30-79%)HP:0008070

Decreased response to growth hormone stimulation test

Frequent (30-79%)HP:0000824

Hair loss

Frequent (30-79%)HP:0001596

Hyperbilirubinemia, neonatal

Frequent (30-79%)HP:0003265

Hypothyroidism

Frequent (30-79%)HP:0000821

Increased length of eyelashes

Frequent (30-79%)HP:0000527

Low birth weight

Frequent (30-79%)HP:0001518

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Peripheral axonal neuropathy

Frequent (30-79%)HP:0003477

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Pigmentary retinal deposits

Frequent (30-79%)HP:0000580

Retarded ossification

Frequent (30-79%)HP:0002750

Very poor growth

Frequent (30-79%)HP:0001510

Related Conditions

Ectodermal dysplasia(parent)

Congenital anomaly of hair(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of eyelid(parent)

Degeneration of retina(parent)

Small stature(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of the visual system(parent)

Deformity of eyelid(parent)

Congenital anomaly of retina(parent)

Congenital deformity of face(parent)

Disorder of hair growth(parent)

Developmental hereditary disorder(parent)

Congenital deformity of soft tissue(parent)

Abnormal eyelash morphology(parent)

Quick Facts

SNOMED CT: 719944006
UMLS CUI: C1848745
Fully Specified Name: Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.