GAPO syndrome
- Synonyms
- Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (10 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Eruption failure
Eruption failure
- MedGen UID: 11856
- Concept ID: C0040458
- Finding: Finding
Abnormality of head or neck
- High, narrow palate
High, narrow palate
- MedGen UID: 324787
- Concept ID: C1837404
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Sparse eyebrow
Sparse eyebrow
- MedGen UID: 371332
- Concept ID: C1832446
- Finding: Finding
Abnormality of head or neck
- Thick lower lip vermilion
Thick lower lip vermilion
- MedGen UID: 326567
- Concept ID: C1839739
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of the breast
- Breast hypoplasia
Breast hypoplasia
- MedGen UID: 75594
- Concept ID: C0266013
- Finding: Congenital Abnormality
Abnormality of the breast
- Hypoplastic nipples
Hypoplastic nipples
- MedGen UID: 98156
- Concept ID: C0432355
- Finding: Congenital Abnormality
Abnormality of the breast
- Breast hypoplasia
- Abnormality of the cardiovascular system
- Prominent scalp veins
Prominent scalp veins
- MedGen UID: 347261
- Concept ID: C1856542
- Finding: Finding
Abnormality of the cardiovascular system
- Prominent scalp veins
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the ear
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Abnormality of the ear
- Protruding ear
- Abnormality of the eye
- Esotropia
Esotropia
- MedGen UID: 4550
- Concept ID: C0014877
- Finding: Disease or Syndrome
Abnormality of the eye
- Glaucoma
Glaucoma
- MedGen UID: 42224
- Concept ID: C0017601
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Keratoconus
Keratoconus
- MedGen UID: 44015
- Concept ID: C0022578
- Finding: Disease or Syndrome
Abnormality of the eye
- Megalocornea
Megalocornea
- MedGen UID: 138008
- Concept ID: C0344530
- Finding: Congenital Abnormality
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal arteriolar tortuosity
Retinal arteriolar tortuosity
- MedGen UID: 1813053
- Concept ID: CN208740
- Finding: Finding
Abnormality of the eye
- Shallow anterior chamber
Shallow anterior chamber
- MedGen UID: 602215
- Concept ID: C0423276
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Esotropia
- Abnormality of the genitourinary system
- Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
- MedGen UID: 370652
- Concept ID: C1969372
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Tubulointerstitial fibrosis
- Abnormality of the integument
- Alopecia
Alopecia
- MedGen UID: 7982
- Concept ID: C0002170
- Finding: Finding
Abnormality of the integument
- Epidermoid cyst
Epidermoid cyst
- MedGen UID: 41829
- Concept ID: C0014511
- Finding: Anatomical Abnormality
Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Redundant skin
Redundant skin
- MedGen UID: 154379
- Concept ID: C0581342
- Finding: Pathologic Function
Abnormality of the integument
- Sparse eyelashes
Sparse eyelashes
- MedGen UID: 375151
- Concept ID: C1843300
- Finding: Finding
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Alopecia
- Abnormality of the musculoskeletal system
- Bell-shaped thorax
Bell-shaped thorax
- MedGen UID: 351320
- Concept ID: C1865186
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed closure of the anterior fontanelle
Delayed closure of the anterior fontanelle
- MedGen UID: 825928
- Concept ID: C3840083
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed cranial suture closure
Delayed cranial suture closure
- MedGen UID: 75805
- Concept ID: C0277828
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Facial palsy
Facial palsy
- MedGen UID: 87660
- Concept ID: C0376175
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Plagiocephaly
Plagiocephaly
- MedGen UID: 1825944
- Concept ID: C2081594
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Bell-shaped thorax
- Abnormality of the nervous system
- EEG abnormality
EEG abnormality
- MedGen UID: 56235
- Concept ID: C0151611
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Photophobia
Photophobia
- MedGen UID: 43220
- Concept ID: C0085636
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- EEG abnormality
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.