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])

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