Intellectual disability, Buenos-Aires type

Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(52.4%)		 10190479
 Mutchinick syndrome in a Japanese girl.
Tonoki H, Hattori T, Kamoshida H, Ohta Y, Niikawa N.
Am J Med Genet. 1999;83(2):96-9.
Microcephaly Palmoplantar hyperkeratosis
Child Craniofacial Abnormalities Females Genes, Recessive Growth Disorders Homo sapiens Intellectual Disability Keratoderma, Palmoplantar Syndactyly Syndrome Ventricular Septal Defects
2
(39.0%)		 9409875
 Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.
Doerfler W, Wieczorek D, Gillessen-Kaesbach G, Albrecht B, Passarge E.
Am J Med Genet. 1997;73(2):210-6.
Microcephaly
Child Craniofacial Abnormalities Germany Growth Disorders Homo sapiens Hydrocephalus Intellectual Disability Male Microcephaly Speech Disorders Syndrome
3
(31.0%)		 20578131
 Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.
Semerci CN, Cinbis M, Ullmann R, Steininger A, Bahce M, Yagci B, Ozden S, Sabir N, Gumus D, Tepeli E, Arteaga J, Mutchinick OM.
Am J Med Genet A. 2010;152A(7):1724-9.
Hypertelorism Clinodactyly
Adult Child Child, Preschool Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 6 Chromosomes, Human, X Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Monosomy Phenotype Pregnancy Syndrome Trisomy Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000218 High palate Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000340 Sloping forehead Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000613 Photophobia Very frequent (99-80%)
HP:0000689 Dental malocclusion Very frequent (99-80%)
HP:0000768 Pectus carinatum Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001537 Umbilical hernia Very frequent (99-80%)
HP:0001671 Abnormal cardiac septum morphology Very frequent (99-80%)
HP:0002064 Spastic gait Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0002213 Fine hair Very frequent (99-80%)
HP:0002644 Abnormality of pelvic girdle bone morphology Very frequent (99-80%)
HP:0002648 Abnormality of calvarial morphology Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004349 Reduced bone mineral density Very frequent (99-80%)
HP:0004422 Biparietal narrowing Very frequent (99-80%)
HP:0006482 Abnormality of dental morphology Very frequent (99-80%)
HP:0008407 Hyperconvex thumb nails Very frequent (99-80%)
HP:0008425 Cuboid-shaped thoracolumbar vertebral bodies Very frequent (99-80%)
HP:0010807 Open bite Very frequent (99-80%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000238 Hydrocephalus 1
HP:0000252 Microcephaly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID