Cleft palate, and Vesicoureteral reflux

Diseases related with Cleft palate and Vesicoureteral reflux

In the following list you will find some of the most common rare diseases related to Cleft palate and Vesicoureteral reflux that can help you solving undiagnosed cases.


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Medium match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Medium match HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

Medium match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

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Other less relevant matches:

Medium match PFEIFFER SYNDROME TYPE 3


Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2


Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 Is also known as glycosylphosphatidylinositol biosynthesis defect 6|gpibd6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2

Medium match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Medium match DIAMOND-BLACKFAN ANEMIA 7; DBA7


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Medium match MEIER-GORLIN SYNDROME 7; MGORS7


Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 7; MGORS7

Medium match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Vesicoureteral reflux

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Choanal atresia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Vesicoureteral reflux. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Seizures Sensorineural hearing impairment Cryptorchidism Scoliosis Intrauterine growth retardation Low-set ears Renal dysplasia Hypertelorism High palate Short nose Ventricular septal defect Anal atresia Short stature Hydronephrosis Aganglionic megacolon

Rare Symptoms - Less than 30% cases


Abnormal facial shape Renal insufficiency Micrognathia Multicystic kidney dysplasia Microtia Pulmonary hypoplasia Bilateral sensorineural hearing impairment Hydrocephalus Generalized hypotonia Microphthalmia Progressive microcephaly Abnormality of the kidney Renal hypoplasia Plagiocephaly Ptosis Polycystic kidney dysplasia Anterior plagiocephaly Proptosis Anal stenosis Abnormality of cardiovascular system morphology Long palpebral fissure Anteverted nares Small nail Intestinal malrotation Horseshoe kidney Atrial septal defect Stenosis of the external auditory canal Wide nasal bridge Oligohydramnios Delayed speech and language development Myopia Wide anterior fontanel Unilateral renal agenesis Clinodactyly Atresia of the external auditory canal Iris coloboma Renal agenesis Osteopenia Micropenis Bilateral renal dysplasia Anonychia Neoplasm Long face Flat face Aplasia/Hypoplasia of the patella Patent ductus arteriosus Duodenal stenosis Osteoporosis Short thumb Recurrent otitis media Tetralogy of Fallot Urethral stricture Paralysis Dysphagia Retrognathia Patellar hypoplasia Neutropenia Conductive hearing impairment Facial palsy Polyhydramnios Abnormality of the pinna Strabismus Sagittal craniosynostosis Thin eyebrow Increased mean corpuscular volume Hypospadias Narrow mouth Uterine neoplasm Joint laxity Craniosynostosis Small hypothenar eminence Vitamin D deficiency Fetal distress Decreased body weight Reticulocytopenia Secundum atrial septal defect Esophagitis Complete atrioventricular canal defect Recurrent lower respiratory tract infections Preaxial polydactyly Sprengel anomaly Clitoral hypertrophy Clubbing Bowing of the legs 2-3 toe syndactyly Mild short stature Arnold-Chiari type I malformation Macrocytic anemia Coronal craniosynostosis Triphalangeal thumb Downturned corners of mouth Cupped ear Bifid uvula Dilatated internal auditory canal Feeding difficulties Spasticity Failure to thrive Gustatory lacrimation Enlarged cochlear aqueduct Cholesteatoma Incomplete partition of the cochlea type II Brachydactyly Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Tetraparesis Short toe Spastic tetraparesis Epicanthus Optic atrophy Cortical gyral simplification Severe global developmental delay Delayed myelination Sloping forehead Ventricular hypertrophy Wide nose Short distal phalanx of finger Poor speech Small for gestational age Hypoplasia of the corpus callosum Intellectual disability, moderate Muscular hypotonia of the trunk Aggressive behavior Thin upper lip vermilion Myoclonus Cerebral atrophy Patent foramen ovale Lacrimal duct aplasia Microdontia Preauricular pit Ureteropelvic junction obstruction Lacrimation abnormality External ear malformation Mixed hearing impairment Premature graying of hair Ectopic kidney Epiphora Hemiclonic seizures Hypoplasia of the maxilla Renal hypoplasia/aplasia Congenital hip dislocation Narrow face Preauricular skin tag Atrial fibrillation Lacrimal duct stenosis Overbite Euthyroid goiter Central hypotonia Unilateral renal hypoplasia Renal steatosis Hypoplasia of the cochlea Cochlear malformation Renal malrotation Branchial fistula Arteria lusoria Bilateral renal agenesis Branchial cyst Body odor Abnormality of the middle ear ossicles Short 5th finger Right ventricular hypertrophy Capillary malformation Recurrent infections Hyperkinesis Anemia Convex nasal ridge Hypopituitarism Ectrodactyly Thromboembolism Hyposmia Gonadotropin deficiency Prostate cancer Microphallus Bimanual synkinesia Intellectual disability, severe Alopecia Protruding ear Hypotrichosis Ichthyosis Decreased testicular size Anosmia Postaxial hand polydactyly Hemivertebrae Optic nerve hypoplasia Abnormality of brain morphology Hypoplasia of the bladder Depressed nasal bridge Respiratory distress Midface retrusion High forehead Finger syndactyly Toe syndactyly Small hand Short foot Reduced number of teeth Holoprosencephaly Broad thumb Abdominal situs inversus Umbilical hernia Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Prominent nasal bridge Broad forehead Narrow chest Arachnodactyly Abdominal distention Round face Hydroureter Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Megacystis Hypogonadotrophic hypogonadism Agenesis of corpus callosum Hypogonadism Abnormality of the nervous system Cleft lip Coloboma Delayed puberty Cleft upper lip Oral cleft Amenorrhea Hypotelorism Coarctation of aorta Myocardial infarction Primary amenorrhea Gynecomastia Limitation of joint mobility Amblyopia Unilateral renal dysplasia Severe postnatal growth retardation Nephrotic syndrome Horizontal nystagmus Hypocalcemia Nephrocalcinosis Ischemic stroke Chronic kidney disease Abnormality of the urinary system Polycystic ovaries Psoriasiform dermatitis Progressive sensorineural hearing impairment Basal ganglia calcification Renal tubular acidosis Hypoparathyroidism Tetany Hematuria Vaginal atresia Ovarian cyst Aplasia of the uterus Hypocalcemic seizures Uterus didelphys Distal renal tubular acidosis Proximal renal tubular acidosis Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Unilateral deafness Abnormality of T cell physiology Parathyroid hypoplasia Ectodermal dysplasia Stroke Increased intracranial pressure Generalized-onset seizure Arnold-Chiari malformation Laryngomalacia Tracheomalacia Short hallux Broad hallux phalanx Aqueductal stenosis Brachyturricephaly Hallux varus Ventriculomegaly Upslanted palpebral fissure Abnormal cardiac septum morphology Pulmonic stenosis Broad nasal tip Tented upper lip vermilion Proteinuria Elevated alkaline phosphatase Broad hallux Peripheral pulmonary artery stenosis Shortening of all distal phalanges of the fingers Perineal fistula Nystagmus Muscle weakness Pain Cardiomyopathy Abnormal heart morphology Rod-cone dystrophy Diabetes mellitus Acidosis Myalgia Abnormal hair whorl



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