Hypertension, and Clinodactyly of the 5th finger

Diseases related with Hypertension and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Hypertension and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top matches:

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

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

Other less relevant matches:

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

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

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertension and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Short nose Seizures Cleft palate Microcephaly Strabismus Sensorineural hearing impairment Brachydactyly Scoliosis Clinodactyly Failure to thrive Posteriorly rotated ears Facial asymmetry Finger syndactyly Abnormality of the dentition Frontal bossing High palate Cleft lip Single transverse palmar crease Abnormal facial shape Low-set ears Hypospadias Depressed nasal bridge Malar flattening Growth delay Cryptorchidism Hypoplasia of the maxilla Ataxia Micrognathia Hypothyroidism Wide nasal bridge Downslanted palpebral fissures Renal insufficiency Cognitive impairment Abnormality of the skeletal system Patent ductus arteriosus Intrauterine growth retardation Intellectual disability, moderate Macrotia Small for gestational age Oral cleft Delayed speech and language development Syndactyly Toe syndactyly Anal atresia Abnormal heart morphology Abnormality of digit Abnormality of cardiovascular system morphology Postnatal growth retardation Abnormal cardiac septum morphology Gastroesophageal reflux Aggressive behavior Inguinal hernia Muscular hypotonia Underdeveloped nasal alae Macrocephaly Dilatation

Rare Symptoms - Less than 30% cases

Short toe Abnormal hair pattern Cone-shaped epiphysis Tapered finger Everted lower lip vermilion Prominent nasal bridge Short philtrum Joint laxity Blue irides Fair hair Pectus excavatum Hernia Bilateral single transverse palmar creases Behavioral abnormality Chronic otitis media Cataract Abnormality of the genitourinary system Anteverted nares Midface retrusion Choanal atresia Abnormality of the pancreas Abnormality of the skull Exocrine pancreatic insufficiency Open bite Preaxial hand polydactyly Pulmonary arterial hypertension Shallow orbits Sandal gap Finger clinodactyly Widely spaced teeth Protruding ear Atrial septal defect Generalized hypotonia Optic atrophy Ventricular septal defect Intellectual disability, severe Long philtrum External ear malformation Prominent occiput Hallux valgus Micropenis Abnormal form of the vertebral bodies Dandy-Walker malformation Broad forehead Upslanted palpebral fissure Increased intracranial pressure Patellar hypoplasia Rectovaginal fistula Nephritis Cleft upper lip Convex nasal ridge Pes planus Edema Talipes equinovarus Ptosis Neoplasm Postaxial hand polydactyly Esotropia Telecanthus Alopecia Coxa valga Short palpebral fissure Specific learning disability Mandibular prognathia Long face Fatigue Autism Arachnodactyly Joint hyperflexibility Dilated cardiomyopathy Craniosynostosis Hyperactivity Diabetes mellitus Keratoconus Blepharophimosis Hydronephrosis Proteinuria Dyspnea Elevated hepatic transaminase Agenesis of corpus callosum Molar tooth sign on MRI Hepatomegaly Cardiomyopathy Diabetes insipidus Preaxial polydactyly Aplasia/Hypoplasia of the corpus callosum Microretrognathia Spontaneous abortion Delayed skeletal maturation Preauricular skin tag Coronal craniosynostosis Wide anterior fontanel Omphalocele Open mouth Wide intermamillary distance Bifid uvula Retinal dystrophy Postaxial polydactyly External genital hypoplasia Duplication of phalanx of hallux Cerebral hypoplasia Preaxial foot polydactyly Abnormal pulmonary valve morphology Duplication of thumb phalanx Triangular mouth Hypopigmentation of the fundus Bifid distal phalanx of the thumb Hypoplasia of teeth Vertebral fusion Narrow nose Diastasis recti Anemia Intracranial cystic lesion Bilateral cleft lip Smooth philtrum Postaxial foot polydactyly Arachnoid cyst Anencephaly Pulmonary valve defects Partial agenesis of the corpus callosum Thin vermilion border Umbilical hernia Severe global developmental delay Shawl scrotum Coxa magna Retinopathy of prematurity Shallow acetabular fossae Long toe Moderate global developmental delay Bifid nose Mild global developmental delay Blepharitis Buphthalmos Nystagmus Slender finger Long fingers Premature closure of fontanelles Anterior plagiocephaly Proximal radio-ulnar synostosis Congenital contracture Bicuspid aortic valve Sacral dimple Chalazion Bilateral cleft lip and palate Mild hearing impairment Retrognathia Short columella Narrow internal auditory canal Skull asymmetry Coloboma Abnormality of the pinna Apnea Abnormality of the antihelix Abnormality of the liver Blepharospasm Ventriculomegaly Polydactyly Prominent forehead Cerebellar hypoplasia Deviated nasal septum Adrenal hyperplasia Duplication of the distal phalanx of hand Cerebral atrophy Hypoplasia of the corpus callosum Severe short stature Abdominal distention Hypotrichosis Migraine Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Lacrimal duct stenosis Craniofacial dysostosis Lambdoidal craniosynostosis Neoplasm of the breast Hypoproteinemia Partial duplication of the distal phalanx of the 2nd finger Calvarial skull defect Frontal upsweep of hair Dental malocclusion Hypotelorism Broad thumb Congenital adrenal hyperplasia Anal stenosis Facial cleft Hypoplastic nipples Prominent crus of helix Amblyopia Skin dimples Uterus didelphys Abnormal nasolacrimal system morphology Hypoplasia of the primary teeth Renotubular dysgenesis Absent first metatarsal Low-set, posteriorly rotated ears Conductive hearing impairment High forehead Proptosis Brachycephaly Flexion contracture Midline skin dimples over anterior/posterior fontanelles Urethrovaginal fistula Abnormality of the nares Partial duplication of the distal phalanx of the 3rd finger Microtia Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Flat face Increased VLDL cholesterol concentration Colonic diverticula Parietal foramina Hypopituitarism Malabsorption Broad hallux Situs inversus totalis Cafe-au-lait spot Trigonocephaly Craniofacial asymmetry Cholestasis Triphalangeal thumb Epiphora Sparse scalp hair Hypoplasia of penis Microdontia Radioulnar synostosis Delayed cranial suture closure Growth hormone deficiency Intestinal malrotation Generalized muscle weakness Hyperlordosis Long nose Delayed eruption of teeth Downturned corners of mouth Hepatic failure Abnormality of the nail Hypocalcemia Anteriorly placed anus Cutaneous syndactyly Low anterior hairline Glycosuria Elbow flexion contracture Flat forehead Agenesis of permanent teeth Adrenogenital syndrome Steatorrhea Narrow palate Plagiocephaly Oxycephaly Pointed chin Dextrocardia Sleep apnea Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Breast carcinoma Oligodontia Severe muscular hypotonia Hyperbilirubinemia Abnormality of pelvic girdle bone morphology Hydroureter Hypoplastic radial head Abnormality of epiphysis morphology Abnormality of dental enamel Hypoplasia of the zygomatic bone Median cleft lip Foot polydactyly Tarsal synostosis Milia Hand polydactyly Brittle hair Coarse hair Reduced bone mineral density Multicystic kidney dysplasia Deviation of finger Abnormality of the face Hypodontia Dry skin Sparse hair Dystonia Tremor Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Pancreatic cysts Broad alveolar ridges Femoral hernia Respiratory tract infection Anorexia Stereotypy Dental crowding Psychosis Prominent nose Abnormality of skin pigmentation Pulmonic stenosis Pectus carinatum Attention deficit hyperactivity disorder Anxiety Accessory oral frenulum Thin upper lip vermilion Gait ataxia Depressivity Microphthalmia Gait disturbance Odontogenic neoplasm Lip pit Tongue nodules Hamartoma of tongue Lobulated tongue Median cleft lip and palate Arterial stenosis Aspiration Accelerated skeletal maturation Myopia Chronic rhinitis Red hair Cone-shaped epiphyses of the phalanges of the hand Rhinitis Spinal canal stenosis Congenital hypothyroidism Mild short stature Short metatarsal Type I diabetes mellitus Congestive heart failure Short phalanx of finger Osteoarthritis Eczema Short metacarpal Round face Asthma Small hand Joint stiffness Skeletal dysplasia Obesity Respiratory distress Respiratory failure Avascular necrosis of the capital femoral epiphysis Telangiectasia of the skin Abnormal myocardium morphology Myocarditis Esophagitis Aortic dissection Cardiorespiratory arrest Hiatus hernia Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Rocker bottom foot Hypertrophic cardiomyopathy Aortic aneurysm Pyloric stenosis Redundant skin Hyperextensible skin Coxa vara Cardiac arrest Thin skin Myocardial infarction Hip dysplasia Hip dislocation Aortic valve stenosis Narrow face Long eyelashes Triangular face Esophageal atresia 2-3 toe syndactyly Short middle phalanx of finger Tracheoesophageal fistula Abnormality of the hand Narrow palpebral fissure Abnormal vertebral morphology Short thumb Decreased fetal movement Thick vermilion border Depressed nasal tip Polyhydramnios Vomiting Biceps aplasia Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Stellate iris Vocal cord paralysis Short 5th finger Iliac horns Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Limitation of joint mobility Highly arched eyebrow Bulbous nose Retinopathy Narrow mouth Intellectual disability, mild Hyperreflexia Deviation of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 5th finger 4-5 toe syndactyly Polysplenia Small anterior fontanelle Annular pancreas Aplasia of the middle phalanx of the hand Frontal balding Accessory spleen Intestinal atresia Periorbital fullness Abnormality of the spleen Duodenal atresia Asplenia Thickening of the lateral border of the scapula Glenoid fossa hypoplasia Horseshoe kidney Talipes Recurrent urinary tract infections Lumbar hyperlordosis Nephrotic syndrome Nail dysplasia Microcornea Nephropathy Hematuria Paresthesia Confusion Arthrogryposis multiplex congenita Spina bifida Nail dystrophy Abnormality of the kidney Glaucoma Osteoporosis Pain Six lumbar vertebrae Subvalvular aortic stenosis Broad face Bipolar affective disorder Nasal speech Renal dysplasia Aortic regurgitation Hypoplasia of first ribs Ridged nail Microphakia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Albuminuria Congenital nephrotic syndrome Cervical ribs Microalbuminuria Aplasia/Hypoplasia of the patella Concave nail Patellar aplasia Abnormality of the urinary system Tubulointerstitial nephritis Raynaud phenomenon Abnormality of the elbow Patellar dislocation Renal cell carcinoma Colon cancer Limited elbow extension Anonychia Glomerulonephritis Pterygium Cleft of chin


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