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GAPO syndrome(GAPOS)

MedGen UID:
98034
Concept ID:
C0406723
Disease or Syndrome
Synonym: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
SNOMED CT: Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (721843003); GAPO syndrome (721843003); GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome (721843003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ANTXR1 (2p13.3)
 
Monarch Initiative: MONDO:0009263
OMIM®: 230740
Orphanet: ORPHA2067

Definition

GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) and Bayram et al. (2014) noted that optic atrophy is not a consistent feature of the disorder. [from OMIM]

Clinical features

From HPO
Tubulointerstitial fibrosis
MedGen UID:
370652
Concept ID:
C1969372
Disease or Syndrome
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.
Prominent scalp veins
MedGen UID:
347261
Concept ID:
C1856542
Finding
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Delayed cranial suture closure
MedGen UID:
75805
Concept ID:
C0277828
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Bell-shaped thorax
MedGen UID:
351320
Concept ID:
C1865186
Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Plagiocephaly
MedGen UID:
1825944
Concept ID:
C2081594
Finding
Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
Delayed closure of the anterior fontanelle
MedGen UID:
825928
Concept ID:
C3840083
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Eruption failure
MedGen UID:
11856
Concept ID:
C0040458
Finding
A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
High, narrow palate
MedGen UID:
324787
Concept ID:
C1837404
Finding
The presence of a high and narrow palate.
Thick lower lip vermilion
MedGen UID:
326567
Concept ID:
C1839739
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Epidermoid cysts
MedGen UID:
41829
Concept ID:
C0014511
Anatomical Abnormality
Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.
Redundant skin
MedGen UID:
154379
Concept ID:
C0581342
Pathologic Function
Loose and sagging skin often associated with loss of skin elasticity.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Breast hypoplasia
MedGen UID:
75594
Concept ID:
C0266013
Congenital Abnormality
Underdevelopment of the breast.
Hypoplastic nipples
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Underdevelopment of the nipple.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Keratoconus
MedGen UID:
44015
Concept ID:
C0022578
Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Megalocornea
MedGen UID:
138008
Concept ID:
C0344530
Congenital Abnormality
Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983). Megalocornea sometimes occurs as part of the Marfan syndrome (154700). Genetic Heterogeneity of Megalocornea Autosomal recessive megalocornea has been reported (249300).
Shallow anterior chamber
MedGen UID:
602215
Concept ID:
C0423276
Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Retinal arteriolar tortuosity
MedGen UID:
1830276
Concept ID:
C5779554
Finding
The presence of an increased number of twists and turns of the retinal arterioles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGAPO syndrome
Follow this link to review classifications for GAPO syndrome in Orphanet.

Recent clinical studies

Etiology

Puranik RS, Puranik SR, Hallur N, Venkatesh D
J Oral Maxillofac Surg 2018 Jun;76(6):1216-1225. Epub 2017 Dec 12 doi: 10.1016/j.joms.2017.12.002. PMID: 29304326
Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS
BMJ Case Rep 2014 Jan 28;2014 doi: 10.1136/bcr-2013-201727. PMID: 24473423Free PMC Article
da Silveira HE, Quadros OF, Dalla-Bona RR, da Silveira HL, Fritscher GG
Braz Dent J 2006;17(3):259-62. doi: 10.1590/s0103-64402006000300016. PMID: 17262136
Ilker SS, Oztürk F, Kurt E, Temel M, Gül D, Sayli BS
Jpn J Ophthalmol 1999 Jan-Feb;43(1):48-52. doi: 10.1016/s0021-5155(98)00058-6. PMID: 10197743
Wajntal A, Koiffmann CP, Mendonça BB, Epps-Quaglia D, Sotto MN, Rati PB, Opitz JM
Am J Med Genet 1990 Oct;37(2):213-23. doi: 10.1002/ajmg.1320370210. PMID: 2248288

Diagnosis

Zeydan B, Benbir G, Uluduz D, Ince B, Goksan B, Islak C
Am J Med Genet A 2014 May;164A(5):1284-8. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36440. PMID: 24664815
Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS
BMJ Case Rep 2014 Jan 28;2014 doi: 10.1136/bcr-2013-201727. PMID: 24473423Free PMC Article
Goloni-Bertollo EM, Ruiz MT, Goloni CB, Muniz MP, Valério NI, Pavarino-Bertelli EC
Am J Med Genet A 2008 Jun 15;146A(12):1523-9. doi: 10.1002/ajmg.a.32157. PMID: 18470892
Bacon W, Hall RK, Roset JP, Boukari A, Tenenbaum H, Walter B
J Craniofac Genet Dev Biol 1999 Oct-Dec;19(4):189-200. PMID: 10731088
Ilker SS, Oztürk F, Kurt E, Temel M, Gül D, Sayli BS
Jpn J Ophthalmol 1999 Jan-Feb;43(1):48-52. doi: 10.1016/s0021-5155(98)00058-6. PMID: 10197743

Therapy

Karadag AS, Calka O, Bilgili SG, Karadag R, Bulut G
Genet Couns 2013;24(2):133-9. PMID: 24032282

Prognosis

Chattopadhyay E, Ghose S, Ray A, Anjum N, Mazumdar A, Roy B
Oral Surg Oral Med Oral Pathol Oral Radiol 2017 Nov;124(5):e261-e265. Epub 2017 Aug 4 doi: 10.1016/j.oooo.2017.07.009. PMID: 28870703
Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS
BMJ Case Rep 2014 Jan 28;2014 doi: 10.1136/bcr-2013-201727. PMID: 24473423Free PMC Article
Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S
Am J Hum Genet 2013 May 2;92(5):792-9. Epub 2013 Apr 18 doi: 10.1016/j.ajhg.2013.03.023. PMID: 23602711Free PMC Article
Ilker SS, Oztürk F, Kurt E, Temel M, Gül D, Sayli BS
Jpn J Ophthalmol 1999 Jan-Feb;43(1):48-52. doi: 10.1016/s0021-5155(98)00058-6. PMID: 10197743
Wajntal A, Koiffmann CP, Mendonça BB, Epps-Quaglia D, Sotto MN, Rati PB, Opitz JM
Am J Med Genet 1990 Oct;37(2):213-23. doi: 10.1002/ajmg.1320370210. PMID: 2248288

Clinical prediction guides

Abdel-Hamid MS, Ismail S, Zaki MS, Abdel-Salam GMH, Otaify GA, Issa MY, Abdel-Kader M, Girgis M, Aboul-Ezz E, Mazen I, Aglan MS, Temtamy SA
Am J Med Genet A 2019 Feb;179(2):237-242. Epub 2018 Dec 21 doi: 10.1002/ajmg.a.61021. PMID: 30575274
Chattopadhyay E, Ghose S, Ray A, Anjum N, Mazumdar A, Roy B
Oral Surg Oral Med Oral Pathol Oral Radiol 2017 Nov;124(5):e261-e265. Epub 2017 Aug 4 doi: 10.1016/j.oooo.2017.07.009. PMID: 28870703
Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S
Am J Hum Genet 2013 May 2;92(5):792-9. Epub 2013 Apr 18 doi: 10.1016/j.ajhg.2013.03.023. PMID: 23602711Free PMC Article
Goloni-Bertollo EM, Ruiz MT, Goloni CB, Muniz MP, Valério NI, Pavarino-Bertelli EC
Am J Med Genet A 2008 Jun 15;146A(12):1523-9. doi: 10.1002/ajmg.a.32157. PMID: 18470892
Ilker SS, Oztürk F, Kurt E, Temel M, Gül D, Sayli BS
Jpn J Ophthalmol 1999 Jan-Feb;43(1):48-52. doi: 10.1016/s0021-5155(98)00058-6. PMID: 10197743

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