Dyssegmental dysplasia Silverman Handmaker type

disorder

SNOMED 765204000CUI C1857100

Overview

Dyssegmental dysplasia Silverman Handmaker type 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.

Dwarfism, short-limbed

Always present (100%)HP:0008873

Thoracic hypoplasia

Always present (100%)HP:0005257

Anisospondyly

Frequent (30-79%)HP:0002879

Bowed lower limbs

Frequent (30-79%)HP:0002979

Calvarial defect

Frequent (30-79%)HP:0001362

Dysmelia

Frequent (30-79%)HP:0040064

Fetal foot inversion

Frequent (30-79%)HP:0001762

Flat facial shape

Frequent (30-79%)HP:0012368

Lens opacities

Frequent (30-79%)HP:0000518

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Low chest circumference

Frequent (30-79%)HP:0000774

Micromelia

Frequent (30-79%)HP:0002983

Posterior encephalocele

Frequent (30-79%)HP:0002085

Short limbs

Frequent (30-79%)HP:0009826

Short neck

Frequent (30-79%)HP:0000470

Short stature, severe

Frequent (30-79%)HP:0003510

shortened long tubular bones

Frequent (30-79%)HP:0003026

2 vessel cord

Occasional (5-29%)HP:0001195

Bifid skull

Occasional (5-29%)HP:0002084

Cardiac anomaly

Occasional (5-29%)HP:0001627

Cleft of palate

Occasional (5-29%)HP:0000175

Clubbing of fingers

Occasional (5-29%)HP:0100759

Congenital cataracts, bilateral

Occasional (5-29%)HP:0000519

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased size of cranium

Occasional (5-29%)HP:0000252

Flexion contractures

Occasional (5-29%)HP:0001371

Hirsutism

Occasional (5-29%)HP:0001007

Hydrops fetalis

Occasional (5-29%)HP:0001789

Hypoplastic ischii

Occasional (5-29%)HP:0003175

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Related Conditions

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

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Spondyloepimetaphyseal disorder(parent)

Developmental hereditary disorder(parent)

Congenital dysplasia of limb(parent)

Abnormality of limb bone morphology(parent)

Quick Facts

SNOMED CT: 765204000
UMLS CUI: C1857100
Fully Specified Name: Dyssegmental dysplasia Silverman Handmaker type (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.