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Roberts-SC phocomelia syndrome

disorder
SNOMED 48718006CUI C0392475

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Abnormality of the arm
Very frequent (80-99%)HP:0002817
absence of radius and ulna
Very frequent (80-99%)HP:0003974
Aplastic/hypoplastic thumbs
Very frequent (80-99%)HP:0009601
Attachment of thumb close to wrist
Very frequent (80-99%)HP:0009623
Bilateral fifth digit clinodactyly
Very frequent (80-99%)HP:0004209
Bowed long bones
Very frequent (80-99%)HP:0006487
Complete duplication of thumb bones
Very frequent (80-99%)HP:0009943
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Growth delay as children
Very frequent (80-99%)HP:0008897
Hypertrophy of maxilla
Very frequent (80-99%)HP:0430028
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Mesomelia of the upper limbs
Very frequent (80-99%)HP:0005011
Phocomelia
Very frequent (80-99%)HP:0009829
Radial deviation of finger
Very frequent (80-99%)HP:0009466
Shortening of radius
Very frequent (80-99%)HP:0002984
Small nasal alae
Very frequent (80-99%)HP:0000430
Thin, sparse hair
Very frequent (80-99%)HP:0008070
Wide cranium shape
Very frequent (80-99%)HP:0000248
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Absent ear lobes
Frequent (30-79%)HP:0000387
Absent ossification/absent ulna
Frequent (30-79%)HP:0003982
Absent thumb
Frequent (30-79%)HP:0009777
Cavernous hemangioma of the face
Frequent (30-79%)HP:0007486
Cleft of palate
Frequent (30-79%)HP:0000175
Cleft of upper lip
Frequent (30-79%)HP:0000204
Cryptorchidism
Frequent (30-79%)HP:0000028
Fused forearm bones
Frequent (30-79%)HP:0002974
Humeral hypoplasia
Frequent (30-79%)HP:0005792
Hypoplasia of the ulna
Frequent (30-79%)HP:0003022
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347

Related Conditions

Multiple malformation syndrome with facial-limb defects as major feature(parent)
Phocomelia(parent)
Recessive hereditary disorder (autosomal)(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
48718006
UMLS CUI
C0392475
Fully Specified Name
Roberts-SC phocomelia 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.