Autosomal recessive hereditary disorder	Congenital neurological disorder	Developmental hereditary disorder	Ectodermal dysplasia with hair-tooth defects	False anodontia	Hereditary disorder of the integument	Hereditary disorder of tooth	Inherited optic neuropathy	Intellectual disability	Malformation of teeth	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
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Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)
	GAPO syndrome
	GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome
	A multiple congenital anomalies syndrome. Approximately 38 patients have been reported in literature since the first description in 1947. Patients have a short stature and a typical facies. Scalp hair may be primarily present but disappears after the first months of life leading to complete or partial alopecia. Eyebrows and/or eyelashes are sparse. Primary and permanent teeth are formed but fail to erupt. Ocular manifestations may include progressive optic atrophy, glaucoma and strabismus. Otorhinolaryngologic features include choanal atresia and deafness. Patients have a mild intellectual deficit. Some patients have also been reported with umbilical hernia, hyperextensible joints, osseous anomalies and cutaneous manifestations. Homozygous nonsense or splicing mutations in the ANTXR1 gene, encoding anthrax toxin receptor 1 cause GAPO Syndrome.
	syndroom van groeiretardatie, alopecia, pseudoanodontie en opticusatrofie
	GAPO-syndroom

Id	721843003
Status	Primitive

Associated morphology	Dysplasia
Finding site	Ectoderm structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Hair structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Dentition
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Optic nerve structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

Has interpretation	Absent
Interprets	Tooth presence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q82.4
Rule	TRUE
Advice	ALWAYS Q82.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified