Neonatal pseudo-hydrocephalic progeroid syndrome

disorder

SNOMED 238874008CUI C0406586

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.

Concave bridge of nose

Always present (100%)HP:0005280

Decreased projection of mandible

Always present (100%)HP:0000347

Low birth weight

Always present (100%)HP:0001518

Missing scalp hair

Always present (100%)HP:0002293

Muscle atrophy, generalised

Always present (100%)HP:0003700

Natal tooth

Always present (100%)HP:0000695

Prematurely aged appearance

Always present (100%)HP:0007495

Protruding forehead

Always present (100%)HP:0011220

Slender long bone

Always present (100%)HP:0003100

Xerosis

Always present (100%)HP:0000958

Atrophy of fat

Very frequent (80-99%)HP:0100578

Congenital generalized lipodystrophy

Very frequent (80-99%)HP:0009059

Decreased amount of facial adipose tissue

Very frequent (80-99%)HP:0000292

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Enophthalmos

Very frequent (80-99%)HP:0000490

Eyelid turned in

Very frequent (80-99%)HP:0000621

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hooked nose

Very frequent (80-99%)HP:0000444

Hypotrophic facial bones

Very frequent (80-99%)HP:0002692

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Inverted triangular face

Very frequent (80-99%)HP:0000325

Mongoloid slant

Very frequent (80-99%)HP:0000582

Narrow mouth

Very frequent (80-99%)HP:0000160

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Progeroid facial appearance

Very frequent (80-99%)HP:0005328

Prominent scalp veins

Very frequent (80-99%)HP:0001043

Related Conditions

Premature ageing syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Neonatal metabolic disorder(parent)

Quick Facts

SNOMED CT: 238874008
UMLS CUI: C0406586
Fully Specified Name: Neonatal pseudo-hydrocephalic progeroid 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.