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Baller-Gerold syndrome

disorder
SNOMED 77608001CUI C0265308

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.

Absent fingers
Very frequent (80-99%)HP:0009380
Absent/underdeveloped radius
Very frequent (80-99%)HP:0006501
Aplastic/hypoplastic thumbs
Very frequent (80-99%)HP:0009601
Brachyturricephaly
Very frequent (80-99%)HP:0000244
Decreased body height
Very frequent (80-99%)HP:0004322
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Frontal protuberance
Very frequent (80-99%)HP:0002007
Growth failure
Very frequent (80-99%)HP:0001510
Large fontanelle
Very frequent (80-99%)HP:0000239
Prominent eyes
Very frequent (80-99%)HP:0000520
Short and broad skull
Very frequent (80-99%)HP:0000248
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Absent thumb
Frequent (30-79%)HP:0009777
Anomalous carpal bones
Frequent (30-79%)HP:0001191
Anteriorly displaced anus
Frequent (30-79%)HP:0001545
Bowed long bones
Frequent (30-79%)HP:0006487
Craniosyostosis
Frequent (30-79%)HP:0001363
High arched palate
Frequent (30-79%)HP:0000218
Intestinal malabsorption
Frequent (30-79%)HP:0002024
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Narrow mouth
Frequent (30-79%)HP:0000160
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Oligodactyly
Frequent (30-79%)HP:0012165
Shortening of radius
Frequent (30-79%)HP:0002984
Small to absent patellae
Frequent (30-79%)HP:0006498
Wider-than-typical soft spot of skull
Frequent (30-79%)HP:0000260
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Abnormal localization of kidney
Occasional (5-29%)HP:0100542
Abnormality of the ureter
Occasional (5-29%)HP:0000069
Anal atresia
Occasional (5-29%)HP:0002023

Related Conditions

Craniosynostosis syndrome(parent)
Congenital anomaly of bone and joint(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Congenital dysplasia of radius(parent)

Quick Facts

SNOMED CT
77608001
UMLS CUI
C0265308
Fully Specified Name
Baller-Gerold 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.