Hypertension, and Postaxial polydactyly

Diseases related with Hypertension and Postaxial polydactyly

In the following list you will find some of the most common rare diseases related to Hypertension and Postaxial polydactyly that can help you solving undiagnosed cases.


Top matches:

Low match BARDET-BIEDL SYNDROME


Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Low match NPHP3-RELATED MECKEL-LIKE SYNDROME


NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Low match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

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Other less relevant matches:

Low match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Low match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Low match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Low match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Low match LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Low match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Low match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Top 5 symptoms//phenotypes associated to Hypertension and Postaxial polydactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Postaxial hand polydactyly Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hypertension and Postaxial polydactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus

Common Symptoms - More than 50% cases


Hepatic fibrosis

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Low-set ears Wide nasal bridge Ataxia Frontal bossing Syndactyly Stage 5 chronic kidney disease Seizures Renal insufficiency Nystagmus Multicystic kidney dysplasia Renal cyst Nephronophthisis Strabismus Growth delay Generalized hypotonia Agenesis of corpus callosum Coloboma Molar tooth sign on MRI Micrognathia Cholestasis Cleft palate Dandy-Walker malformation Elevated hepatic transaminase Abnormality of the dentition Inguinal hernia Dilatation Abnormal heart morphology Intellectual disability, severe Hydrocephalus Prominent nasal bridge Ptosis Anteverted nares Finger syndactyly Clinodactyly Retinal dystrophy Abnormality of the kidney Hepatomegaly Sparse hair Telecanthus Pancreatic cysts Proteinuria Portal hypertension Macrocephaly High forehead Encephalocele Cryptorchidism Abnormality of the pancreas Short stature Tremor Occipital encephalocele Postaxial foot polydactyly

Rare Symptoms - Less than 30% cases


Apnea Abnormality of the pinna Hernia Cerebellar hypoplasia Aplasia/Hypoplasia of the corpus callosum Preaxial polydactyly Chronic kidney disease Left ventricular hypertrophy Smooth philtrum Rod-cone dystrophy Retrognathia Intellectual disability, moderate Full cheeks Narrow forehead Hyperbilirubinemia Toe syndactyly Microcephaly Clinodactyly of the 5th finger Muscular hypotonia Failure to thrive External genital hypoplasia Specific learning disability Iris coloboma Long philtrum Micropenis Cerebral atrophy Visual impairment Cataract Foot polydactyly Preaxial hand polydactyly Hypodontia Lobulated tongue Biparietal narrowing Deviation of finger Myelomeningocele Arachnoid cyst Median cleft lip Abnormality of the liver Radial deviation of finger Microretrognathia Underdeveloped nasal alae Bifid uvula Oral cleft Facial asymmetry Short nose Thin vermilion border Alopecia Milia Tongue nodules Tapetoretinal degeneration Hepatosplenomegaly Patent ductus arteriosus Abnormality of the eye Hypoplasia of penis Pigmentary retinopathy Polyhydramnios Neurological speech impairment Posteriorly rotated ears Biliary cirrhosis Abnormality of eye movement Abnormal facial shape Multiple glomerular cysts Hepatic cysts Bile duct proliferation Congenital hepatic fibrosis Situs inversus totalis Short neck Obesity Short philtrum Intestinal malrotation Hypogonadism Meningocele Open mouth Highly arched eyebrow Abnormality of the skeletal system Splenomegaly Cerebellar vermis hypoplasia Cerebellar cortical atrophy Abnormal platelet morphology Microphallus Neural tube defect Anisopoikilocytosis Schistocytosis Increased mean platelet volume Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Acanthocytosis Abnormality of cholesterol metabolism Menstrual irregularities Severe generalized osteoporosis Foam cells with lamellar inclusion bodies Thick upper lip vermilion Bilobate gallbladder Lumbosacral meningocele Abnormality of the thoracic spine Scoliosis Spasticity Vaginal atresia Abnormality of the ovary Gait imbalance Undetectable electroretinogram Hyperreflexia Biliary tract abnormality Intrauterine growth retardation Intrahepatic cholestasis Nephrogenic diabetes insipidus Abnormal electroretinogram Generalized hirsutism Hypoplasia of the ovary Nephrotic syndrome Thrombocytopenia Myoclonus Medial flaring of the eyebrow Osteoporosis Conductive hearing impairment Septate vagina Talipes Hydrometrocolpos Hepatic failure Prominent metopic ridge Bulbous nose Downturned corners of mouth Microcornea Cerebral calcification Sloping forehead Gingival overgrowth Horseshoe kidney Opacification of the corneal stroma Arnold-Chiari malformation Elevated alkaline phosphatase Bilateral talipes equinovarus Talipes equinovarus Low-set, posteriorly rotated ears Pathologic fracture Midface retrusion Gait disturbance Diabetes insipidus Postnatal growth retardation Abnormal cardiac septum morphology Broad forehead Severe global developmental delay Anal atresia Cleft upper lip Tapered finger Esotropia Wide intermamillary distance Omphalocele Wide anterior fontanel Preauricular skin tag Spontaneous abortion Finger clinodactyly Prominent occiput Hypothyroidism Triangular mouth Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Duplication of phalanx of hallux Cerebral hypoplasia Abnormal pulmonary valve morphology Hypopigmentation of the fundus Partial agenesis of the corpus callosum Hypoplasia of teeth Rectovaginal fistula Preaxial foot polydactyly Diastasis recti Anencephaly Abnormality of digit Umbilical hernia Prominent forehead Abnormality of the nervous system Abnormality of abdomen morphology Feeding difficulties in infancy Poor coordination Wide mouth Long face Cirrhosis Nephropathy Round face Gastrointestinal hemorrhage Apraxia Oculomotor apraxia Skeletal muscle atrophy Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Optic nerve coloboma Hypospadias Intrahepatic biliary atresia Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Optic atrophy Sensorineural hearing impairment Chronic hepatic failure Neoplasm of the liver Multiple small medullary renal cysts Aplasia/Hypoplasia of the cerebellar vermis Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Cholestatic liver disease Esophageal varix Broad foot Primary amenorrhea Truncal obesity Abnormal liver parenchyma morphology High anterior hairline Cholangitis Broad philtrum Cloverleaf skull Portal fibrosis Horizontal ribs Metopic synostosis Fused teeth Absent speech Microphthalmia Dysarthria Malar flattening Depressivity Cleft lip Cutaneous finger syndactyly Pancreatic dysplasia Abnormality of the cerebral white matter Carious teeth Abnormal biliary tract morphology Choroid plexus cyst Abnormal cerebellum morphology Potter facies Hypoplasia of dental enamel Meningoencephalocele Cutaneous syndactyly Polycystic kidney dysplasia Cystic renal dysplasia Agenesis of permanent teeth Atrioventricular canal defect Polysplenia Cystic hygroma Abnormal cortical gyration Ectodermal dysplasia Pectus excavatum Depressed nasal bridge Morning glory anomaly Upslanted palpebral fissure Acidosis Breathing dysregulation Multiple renal cysts Tented upper lip vermilion Joint laxity Craniosynostosis Blepharophimosis Dolichocephaly Narrow chest Everted lower lip vermilion Microdontia Pneumonia Limb undergrowth Irritability Rhizomelia Hydrops fetalis Short ribs Narrow palpebral fissure Sparse eyelashes Plagiocephaly Cutis laxa Widely spaced teeth Deeply set eye Patent foramen ovale Sparse eyebrow Mesomelia Increased number of teeth Bifid tongue Respiratory insufficiency Hypertonia Lip pit Odontogenic neoplasm Delayed speech and language development Pulmonary hypoplasia Myopia Diabetes mellitus Glaucoma Reduced visual acuity Retinopathy Pulmonic stenosis Paraplegia Astigmatism Retinal degeneration Hirsutism High, narrow palate Accessory oral frenulum Short foot Asthma Decreased testicular size Atrial septal defect Amenorrhea Abnormality of the genital system Aganglionic megacolon Dental crowding Bicuspid aortic valve Anosmia Clubbing Tricuspid regurgitation Hypoplasia of the uterus Macular dystrophy Hamartoma of tongue Broad alveolar ridges Ovarian cyst Choanal atresia Dry hair Porencephalic cyst Narrow naris Right ventricular hypertrophy Hypothalamic hamartoma Gray matter heterotopias Alveolar ridge overgrowth Abnormality of toe Trident hand Dystonia Aortic valve stenosis Hydronephrosis Dry skin Large fontanelles Abnormality of the face Hypoplasia of the zygomatic bone Short toe Abnormality of dental enamel Reduced bone mineral density Coarse hair Brittle hair Hand polydactyly Chronic otitis media Cone-shaped epiphysis Renal dysplasia Open bite Tarsal synostosis Oligohydramnios Exocrine pancreatic insufficiency Abnormality of the skull Pulmonary valve defects



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