Terminology Service for NFDI4Health
Frank-Ter Haar syndrome (disorder)
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http://snomed.info/id/720958002
Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) has characteristics of megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanelles, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone and congenital heart defects are frequently present.
Term info
Label
Frank-Ter Haar syndrome (disorder)
Synonyms
- Frank-Ter Haar syndrome
- Ter Haar syndrome
Term relations
Subclass of:
- Developmental delay (disorder)
- Megalocornea (disorder)
- Congenital anomaly of skeletal bone (disorder)
- Hereditary disorder of musculoskeletal system (disorder)
- Multiple malformation syndrome with facial defects as major feature (disorder)
- Hereditary disorder of the visual system (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Congenital skeletal dysplasia (disorder)
- Developmental hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Multiple malformation syndrome with facial defects as major feature (disorder) and Developmental delay (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Dysplasia (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Bone structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Enlargement (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Corneal structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Morphologically abnormal structure (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Face structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value))