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Table 1 Differential diagnosis of syndromic infantile hypertrophic pyloric stenosis (IHPS) and renal anomalies as variable features (Bioinformatics were obtained from open-source GeneCards.org and MalaCards.org and from Peeters et al. [21])

From: Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report

Cytogenetic region/gene(s) n. of IHPS cases Mode of inheritance Phenotype
1p36/SKI, SPEN, RERE, PRDM16, GABRD, HSPG2 1–4   1p36 deletion syndrome (craniofacial dysmorphism, hydrocephalus, genitourinary and neurodevelopmental disorders)
2q22.3/ZEB2 1–4 AD Mowat-Wilson syndrome (craniofacial dysmorphism, deep set eyes, Hirschsprung disease, hydronephrosis)
2q37.3/HDAC4 1–4 AD 2q37 microdeletion syndrome (round face, multicystic kidneys, neurodevelopmental disorders)
3p25 1–4 AD 3p25 microdeletion syndrome (trigonocephaly, microcephaly, cardiac and genitourinary malformations, neurodevelopmental disorders); Noonan syndrome 5 (3p25.2/RAF1 mutations)
4q22.1/PKD2 1–4 AD Polycystic kidney disease 2, laterality defects
5p13.2/NIPBL 11–50 AD Cornelia de Lange syndrome (microbrachicephaly, synorphrys, growth retardation, genitourinary malformations, cardiac and neurodevelopmental disorders)
6p12.3-p12.2/PKHD1 1–4 AR Polycystic kidney disease 4, Caroli disease
6p24.3/TFAP2A 1–4 AD Branchiooculofacial syndrome (orofacial clefts, hearing loss, renal agenesis or cystic anomalies)
6q15/MAP 3 K7 1–4 AD Frontometaphyseal dysplasia 2, cardiac and genitourinary malformations
7q21.2/PEX1 1–4 AR Zellweger syndrome (extreme hypotonia, seizures, renal and hepatic cysts/dysfunction)
8q12.2/CHD7 1–4 AD CHARGE syndrome (coloboma, heart anomaly, choanal atresia, genitourinary and ear malformations); Kallmann syndrome (anosmia, hypogonadotropic hypogonadism)
10q24.32/NFKB2 1–4 AD Common variable immunodeficiency-10, nephrotic syndrome
10q26/FGFR2 1–4 AD Apert syndrome (craniosynostosis, complete syndactyly, hydronephrosis); Beare-Stevenson syndrome (craniosynostosis, cutis gyrate)
11p13/WT1 1–4 AD Denys-Drash syndrome (genitourinary malformations and neoplasia)
11p15.5/HRAS 5–10 AD Costello syndrome (fetal overgrowth, craniofacial dysmorphism, periorificial papillomata, echogenic kidneys, cardiomyopathy, neurodevelopmental disorders)
11q13.4/DHCR7 11–50 AR Smith-Lemli-Opitz syndrome (short stature, craniofacial dysmorphism, cleft palate, genitourinary malformations, syndactyly of second and third toes, cardiac and neurodevelopmental disorders)
12q23.2/PAH 5–10 AR Phenylketonuria (microcephaly, pale pigmentation, neurodevelopmental disorders if not recognized)
12q24.11/UBE3B 1–4 AR Kaufman oculocerebrofacial syndrome (facial dysmorphism, cardiac, genitourinary malformations and neurodevelopmental disorders)
12q24.13/PTPN11 1–4 AD Noonan syndrome 1 (short stature, facial dysmorphism, wolly hair, webbed neck, cardiac and genitourinary malformations)
Trisomy 13 1–4   Patau syndrome (hypotelorism, orofacial clefts, polydactyly, aplasia cutis, visceral malformations)
14q13.2/PPP2R3C 1–4 AR Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, myopathy
14q32 1–4 AD Temple syndrome (short stature, maternal disomy)
16p13.3 1–4 AD Polycystic kidney disease 1, intracranial aneurysm
16q22.2/DHODH 1–4 AR Miller syndrome (postaxial acrofacial dysostosis, genitourinary malformations)
17q12/HNF1B 1–4 AD HNF1B-related tubulointerstitial kidney disease, diabetes
17q21/CAVIN1 5–10 AR Congenital generalized lipodystrophy type IV (muscular dystrophy, arrhythmia, phlebomegaly)
17q21.31/KANSL1 1–4 AD Koolen-De Vries syndrome (craniofacial dysmorphism, cardiac and genitourinary malformations)
Trisomy 18 (18p) 5–10   Edwards’ syndrome (craniofacial dysmorphism, omphalocele, verticaltalus, visceral malformations)
18p11/PIEZO2 1–4 AD Marden-Walker syndrome (microcephaly, blepharophimosis, arthrogryposis, genitourinary malformations)
18q21.32/CCBE1 1–4 AR Hennekam lymphangiectasia-lymphedema syndrome
19q13.12/NPHS1 5–10 AR Nephrotic syndrome type 1, hyperlipidemia
19p13.2/ZNF699 1–4 AR DEGCAGS syndrome (neurodevelopmental disorders, visceral malformations)
19q13.2/LTBP4 1–4 AR Cutis laxa type Ic (hydronephrosis, bladder diverticula)
20q13.33/SOX18 1–4 AD Glomerulonephritis, hypotrichosis, lymphedema, telangiectasia
Trisomy 21 > 50   Down syndrome (hypotonia, craniofacial dysmorphism, sandal gap, cardiac and gastrointestinal malformations, neurodevelopmental disorders)
21q22.3/COL18A1 1–4 AR Knobloch syndrome (eye and CNS abnormalities, aplasia cutis, duplex kidneys or ureters)
22q11.2/BCR, MAPK1 1–4   22q11.2 microdeletion syndrome
Xp11/SMC1A 11–50 XL Cornelia de Lange syndrome (microbrachicephaly, synorphrys, genitourinary malformations, neurodevelopmental disorders)
Xp11.4/BCOR 1–4 XL Lenz microphthalmia, genitourinary malformations
Xp22/STS, FGS3, KAL1 5–10 XL X-linked ichthyosis; FG syndrome (hypotonia, macrocephaly, craniofacial dysmorphism, anorectal malformations); Kallmann syndrome (anosmia, hypogonadotropic hypogonadism)
Xq11.2/AMER1 1–4 XL Osteopathia striata, macrocephaly, cranial sclerosis, multicystic kidneys, male lethality
Xq13/MED12 5–10 XL FG syndrome type 1 also known as Opitz-Kaveggia (hypotonia, macrocephaly, anorectal malformation)
Xq26.2/GPC3 1–4 XL Overgrowth, organomegaly
Xq28/FLNA, NAA10 1–4 XL Pseudoobstruction, hydronephrosis, aortic valvular dysplasia; Lenz microphthalmia; frontometaphyseal dysplasia
  1. Abbreviations: AD Autosomal dominant, AMER1 APC membrane recruitment protein 1, AR Autosomal recessive, BCOR corepressor for B-cell lymphoma 6, BCR Breakpoint cluster region, CAVIN1 Caveolae associated protein 1, CCBE1 Collagen and calcium-binding EGF domains 1, CHD7 Chromodomain helicase DNA binding protein 7, CNS Central nervous system, COL18A1 Collagen type XVIII alpha 1 chain, DHCR7 7-dehydrocholesterol reductase gene, DHODH Dihydroorotate dehydrogenase gene, PKHD1 ciliary IPT domain containing fibrocystin/polyductin, FGFR2 fibroblast growth factor receptor 2, FGS3 FG syndrome 3, FLNA Filamin A, GABRD Gamma-aminobutyric acid type A receptor subunit delta, GPC3 Glypican 3, HDAC4 Histone deacetylase 4, HNF1B Hepatocyte nuclear factor-1-beta, HRAS HRas Proto-Oncogene, HSPG2 Heparan sulfate proteoglycan 2, KAL1 anosmin 1, KANSL1 KAT8 regulatory NSL complex subunit 1, LTBP4 Latent transforming growth factor beta binding protein 4, MAP 3 K7 Mitogen-activated protein kinase kinase kinase 7, MAPK1 Mitogen-activated protein kinase 1, MED12 Mediator complex subunit 12, NAA10 N-alpha-acetyltransferase 10 NatA catalytic subunit, NFKB2 Nuclear factor kappa B subunit 2, NIPBL Nipped-B-like, NPHS1 Nephrin, PAH Phenylalanine hydroxylase, PEX1 Peroxisomal biogenesis factor 1, PIEZO2 Piezo type mechanosensitive ion channel component 2, PKD2 Polycystin, PPP2R3C Protein phosphatase 2 regulatory subunit B-double prime gamma, PRDM16 PR/SET domain 16, PTPN11 Protein tyrosine phosphatase non-receptor type 11, RAF1 Raf-1 proto-oncogene, RERE Arginine-glutamic acid dipeptide repeats, SKI SKI proto-oncogene, SMC1A Structural maintenance of chromosomes 1A, SOX18 SRY-box transcription factor 18, SPEN Spen family transcriptional repressor, STS Steroid sulfatase, TFAP2A transcription factor AP-2 alpha, UBE3B Ubiquitin protein ligase E3B, WT1 Wilms tumor 1 transcription factor, XL X-linked, ZEB2 Zinc finger E-box binding homeobox 2, ZNF699 Zinc finger protein 699