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Frank-Ter Haar Syndrome (MONDO:0009579)

A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

Overview

Category

musculoskeletal system disorder

syndromic disease

Ontology ID

MONDO:0009579

Internal:10800

Synonyms

Borrone Dermatocardioskeletal syndrome

Borrone di Rocco Crovato syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Borrone dermatocardioskeletal syndrome

FRANK-TER Haar syndrome

FTHS

Frank Ter Haar syndrome

Melnick-Needles syndrome, autosomal recessive

Melnick-Needles syndrome, autosomal recessive, formerly

autosomal recessive Melnick-Needles syndrome (formerly)

megalocornea, multiple skeletal anomalies, and developmental delay

Mapped terms

DOID:0111789

GARD:0005138

MEDGEN:383652

MESH:C536577

MESH:C537274

OMIM:211170

OMIM:249420

Orphanet:137834

SCTID:720958002

UMLS:C1855305

icd11.foundation:1643548765

Child terms

Unknown children.

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