Delayed speech and language development, and Polycystic kidney dysplasia

Medium match OROFACIODIGITAL SYNDROME VI; OFD6

Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).

OROFACIODIGITAL SYNDROME VI; OFD6 Is also known as oral-facial-digital syndrome, type vi, ofds vi, varadi-papp syndrome, varadi syndrome, polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation;joubert syndrome with oral-facial-digital syndrome; joubert syndrome with orofaciodigital defect; ofd6; oral-facial-digital syndrome type 6; polydactyly-cleft lip/palate-psychomotor retardation syndrome; váradi syndrome; váradi-papp syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: SCTID UMLS OMIM ORPHANET

Medium match PHELAN-MCDERMID SYNDROME; PHMDS

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome;22q13 deletion; phelan-mcdermid syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: UMLS MONDO OMIM ORPHANET GARD SCTID MESH

Medium match MECKEL SYNDROME 13; MKS13

• Intellectual disability
• Global developmental delay
• Ataxia
• Micrognathia
• Flexion contracture

SOURCES: OMIM MONDO DOID

Medium match NEPHRONOPHTHISIS 2; NPHP2

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

• Autosomal recessive inheritance
• Global developmental delay
• Anemia
• Hepatomegaly
• Hypertension

SOURCES: MONDO OMIM

Medium match DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015).

DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH Is also known as ndh syndrome;

• Autosomal recessive inheritance
• Global developmental delay
• Pica
• Hearing impairment
• Growth delay

SOURCES: MONDO UMLS MESH ORPHANET DOID OMIM

Medium match VERHEIJ SYNDROME; VRJS

Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013).

VERHEIJ SYNDROME; VRJS Is also known as chromosome 8q24.3 deletion syndrome

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: GARD ORPHANET UMLS MONDO OMIM

Medium match MCKUSICK-KAUFMAN SYNDROME; MKKS

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, and congenital heart malformation;hmcs, kaufman-mckusick syndrome;hydrometrocolpos-postaxial polydactyly syndrome; kaufman-mckusick syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Pica

SOURCES: MESH OMIM SCTID GARD MONDO UMLS ORPHANET

Medium match ARIMA SYNDROME

Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see {213300}), COACH syndrome (OMIM ), and familial juvenile nephronophthisis (see {256100}).

ARIMA SYNDROME Is also known as dekaban-arima syndrome, joubert syndrome with bilateral chorioretinal coloboma, coloboma, chorioretinal, with cerebellar vermis aplasia, cerebrooculohepatorenal syndrome;arima syndrome; cors; cerebellooculorenal syndrome; dekaban-arima syndrome; js type b; js-or; joubert syndrome with senior-loken syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: OMIM ORPHANET UMLS SCTID

Medium match TUBEROUS SCLEROSIS 1; TSC1

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex;tsc, tuberose sclerosis;ts;bourneville syndrome; tuberous sclerosis

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Pica

SOURCES: ORPHANET OMIM GARD MONDO NCIT SCTID ICD10 UMLS

Medium match PERLMAN SYNDROME; PRLMNS

Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS ). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).

PERLMAN SYNDROME; PRLMNS Is also known as renal hamartomas, nephroblastomatosis, and fetal gigantism, nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor;nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: SCTID DOID MESH ORPHANET OMIM UMLS NCIT MONDO GARD