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Aglossia-adactyly syndrome

disorder
SNOMED 205817005CUI C0595985

Overview

Aglossia-adactyly 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.

Aplasia/Hypoplasia of the tongue
Very frequent (80-99%)HP:0010295
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Flattening of the zygomatic bone
Very frequent (80-99%)HP:0010669
Narrow mouth
Very frequent (80-99%)HP:0000160
Upper limb phocomelia
Very frequent (80-99%)HP:0009813
Abnormality of the fingernails
Frequent (30-79%)HP:0001231
Absent fingers or toes
Frequent (30-79%)HP:0009776
Absent/small fingers
Frequent (30-79%)HP:0006265
Brachydactyly
Frequent (30-79%)HP:0001156
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Cleft of palate
Frequent (30-79%)HP:0000175
Distal phalangeal hypoplasia
Frequent (30-79%)HP:0009882
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Missing between one and six teeth
Frequent (30-79%)HP:0000668
Partial syndactyly
Frequent (30-79%)HP:0006101
Split hand
Frequent (30-79%)HP:0001171
Abnormal vocalization
Occasional (5-29%)HP:0002167
Abnormality of the cranial nerves
Occasional (5-29%)HP:0001291
Absent anus
Occasional (5-29%)HP:0002023
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Gastroschisis
Occasional (5-29%)HP:0001543
High arched palate
Occasional (5-29%)HP:0000218
Jejunal atresia
Occasional (5-29%)HP:0005235
Mental deficiency
Occasional (5-29%)HP:0001249
Unbalanced face
Occasional (5-29%)HP:0000324
Absence of tongue
HP:0012730
Decreased size of tongue
HP:0000171
Palpebronasal fold
HP:0000286
Retrognathia
HP:0000278

Quick Facts

SNOMED CT
205817005
UMLS CUI
C0595985
Fully Specified Name
Aglossia-adactyly syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
29
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.