Robin sequence with cleft mandible and limb anomalies syndrome

disorder

SNOMED 723998001CUI C1849348

Overview

Robin sequence with cleft mandible and limb anomalies 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.

Hypoplastic mandible condyle

Always present (100%)HP:0000347

Agenesis of mandibular central incisor

Very frequent (80-99%)HP:0006355

Aplastic/hypoplastic thumbs

Very frequent (80-99%)HP:0009601

Dysplastic ears

Very frequent (80-99%)HP:0000377

Fetal foot inversion

Very frequent (80-99%)HP:0001762

Narrow mouth

Very frequent (80-99%)HP:0000160

Retromicrognathia

Very frequent (80-99%)HP:0000308

Short hallux

Very frequent (80-99%)HP:0010109

Small hypothenar eminence

Very frequent (80-99%)HP:0010487

Thumb hypoplasia

Very frequent (80-99%)HP:0009778

Tibial deviation of toes

Very frequent (80-99%)HP:0100499

Agenesis of mandibular lateral incisor

Frequent (30-79%)HP:0200154

Agenesis of maxillary lateral incisor

Frequent (30-79%)HP:0000690

Attachment of thumb close to wrist

Frequent (30-79%)HP:0009623

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased body height

Frequent (30-79%)HP:0004322

Decreased thenar eminence

Frequent (30-79%)HP:0001245

Feeding difficulties

Frequent (30-79%)HP:0011968

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Husky voice

Frequent (30-79%)HP:0001609

Hypoplastic calcaneus

Frequent (30-79%)HP:0012789

Hypoplastic/small little finger

Frequent (30-79%)HP:0009237

Mandibular cleft

Frequent (30-79%)HP:0010752

Mesomelia of the upper limbs

Frequent (30-79%)HP:0005011

Mesomelic lower limb shortening

Frequent (30-79%)HP:0004987

Obstructive lung disease

Frequent (30-79%)HP:0006536

Pierre-Robin sequence

Frequent (30-79%)HP:0000201

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Radial ray hypoplasia

Frequent (30-79%)HP:0002984

Related Conditions

Robin sequence(parent)

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Cleft mandible(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 723998001
UMLS CUI: C1849348
Fully Specified Name: Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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.