Hypertension, and Finger syndactyly

Diseases related with Hypertension and Finger syndactyly

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

Top matches:

Low match GRANGE SYNDROME

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE 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

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Other less relevant matches:

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:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Low match APERT SYNDROME

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

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

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

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Top 5 symptoms//phenotypes associated to Hypertension and Finger syndactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Finger syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Abnormality of the skeletal system Frontal bossing Strabismus Global developmental delay Depressed nasal bridge Downslanted palpebral fissures Hearing impairment Telecanthus Cutaneous finger syndactyly Wide nasal bridge Short stature Syndactyly Cleft palate Sparse hair Hepatic fibrosis Short neck Patent ductus arteriosus Anteverted nares Postaxial hand polydactyly Narrow chest Micrognathia Abnormal facial shape Craniosynostosis Cutaneous syndactyly Generalized hypotonia

Rare Symptoms - Less than 30% cases

Full cheeks Multiple lipomas Cutis laxa Limb undergrowth Ectodermal dysplasia Pectus excavatum Rod-cone dystrophy Short distal phalanx of finger Stage 5 chronic kidney disease Smooth philtrum Midface retrusion Agenesis of corpus callosum Protruding ear Facial asymmetry High forehead Low-set ears Chronic kidney disease Blepharophimosis Elevated hepatic transaminase Proteinuria Sensorineural hearing impairment High palate Seizures Narrow palpebral fissure Delayed eruption of teeth Dry skin Abnormality of the pinna Cataract Underdeveloped nasal alae Abnormality of the metaphysis Cloverleaf skull Mandibular prognathia Myopia Sparse eyebrow Choanal atresia Broad forehead Lymphedema Nephronophthisis Abnormal heart morphology Dilatation Bicuspid aortic valve Clinodactyly Nystagmus Skeletal muscle atrophy Recurrent fractures Multicystic kidney dysplasia Skeletal dysplasia Generalized hirsutism Obesity Cardiomyopathy Prominent nasal bridge Pain Failure to thrive Visual impairment Renal cyst Everted lower lip vermilion Large sella turcica Dolichocephaly Microdontia Narrow forehead Joint laxity Cholestasis Left ventricular hypertrophy Rhizomelia Hypertrichosis Hydrops fetalis High anterior hairline Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Broad philtrum Cholangitis Biliary cirrhosis Polysplenia Short ribs Cystic hygroma Mesomelia Preaxial polydactyly Patent foramen ovale Widely spaced teeth Plagiocephaly Sparse eyelashes Hyperbilirubinemia Curly eyelashes Acidosis Concentric hypertrophic cardiomyopathy Narrow palate Esophageal atresia Aplasia/Hypoplasia of the thumb Ovarian neoplasm Absent septum pellucidum Vertebral segmentation defect Arnold-Chiari malformation Large fontanelles Ectopic anus Broad thumb Convex nasal ridge Bifid uvula Hypoplasia of the maxilla Flat face Micromelia Congenital hypertrophy of left ventricle Corneal erosion Brachyturricephaly Erlenmeyer flask deformity of the femurs Inguinal hernia Retrognathia Congenital, generalized hypertrichosis Polyhydramnios Bilateral coxa valga Tremor Polydactyly Upslanted palpebral fissure Hernia Hypoplastic ischiopubic rami Splenomegaly Cuboid-shaped vertebral bodies Hepatomegaly Broad first metatarsal Acrobrachycephaly Cervical C5/C6 vertebrae fusion Morphological abnormality of the semicircular canal Ataxia Hydronephrosis Deep plantar creases Pyloric stenosis Macrocephaly Low anterior hairline Coxa valga Accelerated skeletal maturation Prominent supraorbital ridges Delayed speech and language development Odontogenic neoplasm Elevated alkaline phosphatase Long philtrum Metaphyseal widening Lip pit Tongue nodules Large for gestational age Hamartoma of tongue Lobulated tongue Accessory oral frenulum Intellectual disability, mild Recurrent infections Broad alveolar ridges Gingival overgrowth Low posterior hairline Long eyelashes Ventricular hypertrophy Cardiomegaly Thick vermilion border Thick eyebrow Platyspondyly Wide mouth Delayed skeletal maturation Hypertrophic cardiomyopathy Anxiety Umbilical hernia Coarse facial features Osteopenia Osteoporosis Prominent forehead Flared metaphysis Deviation of finger Dystonia Reduced bone mineral density Cone-shaped epiphysis Chronic otitis media Esodeviation Hand polydactyly Generalized hypertrichosis Brittle hair Coarse hair Abnormality of dental enamel Open bite Short toe Abnormality of the face Dandy-Walker malformation Hypodontia Thick lower lip vermilion Alopecia Clinodactyly of the 5th finger Preaxial hand polydactyly Broad hallux phalanx Broad hallux Exocrine pancreatic insufficiency Pancreatic cysts Pericardial effusion Feeding difficulties in infancy Abnormality of the pancreas Hypoplasia of the zygomatic bone Abnormality of the skull Median cleft lip Abnormal heart valve morphology Broad ribs Thin ribs Thickened calvaria Short hallux Foot polydactyly Ovoid vertebral bodies Tarsal synostosis Milia Thick upper lip vermilion Toe syndactyly Short nose Conductive hearing impairment Generalized limb muscle atrophy Pneumonia Abnormal axial skeleton morphology Complete duplication of the distal phalanges of the hand Diffuse skin atrophy Connective tissue nevi Osteopoikilosis Abnormal bone structure Abnormal aortic morphology Joint hypermobility Generalized osteosclerosis Abnormal cortical bone morphology Generalized hypopigmentation Atypical scarring of skin Scleroderma Hyperostosis Flat occiput Hypermetropia Thin vermilion border Hoarse voice Pes valgus Nail dystrophy Microtia Coloboma Abnormality of the kidney Camptodactyly Hyperhidrosis Broad phalanx of the toes Broad distal phalanx of finger Nephropathy Sagittal craniosynostosis Elevated serum creatinine Cone/cone-rod dystrophy Recurrent pneumonia Bone marrow hypocellularity Hip dysplasia Asthma Hemangioma Bone pain Iris coloboma Increased susceptibility to fractures Renovascular hypertension Renal artery stenosis Coronary artery stenosis Intellectual disability, borderline Arterial stenosis Gastritis Perimembranous ventricular septal defect Aortic regurgitation Cryptorchidism Finger clinodactyly Decreased body weight Specific learning disability Short palm Pulmonic stenosis Abdominal pain Ventricular septal defect Carotid artery stenosis Hypogonadism Abnormality of epiphysis morphology Arthralgia Subcutaneous nodule Nevus Palmoplantar keratoderma Papule Joint stiffness Arthritis Myalgia Flexion contracture Low-set, posteriorly rotated ears Medial flaring of the eyebrow Hypoplasia of the ovary Abnormal electroretinogram Nephrotic syndrome Hypoplasia of penis Pigmentary retinopathy Neurological speech impairment Congenital cataract Vesicoureteral reflux Proptosis Hypothyroidism Prominent nose Broad nasal tip Single transverse palmar crease Downturned corners of mouth Delayed puberty Short philtrum Autistic behavior Autism Wormian bones Micropenis Brachycephaly Behavioral abnormality Anemia Ptosis Muscular hypotonia Growth delay Abnormality of the genital system Nephroblastoma Duplication of renal pelvis Parietal foramina Abnormality of cardiovascular system morphology Hydrocephalus Respiratory insufficiency Ventriculomegaly Optic atrophy Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Congenital ptosis Self-injurious behavior Craniofacial dysostosis Sparse lateral eyebrow Decreased skull ossification Depressed nasal tip Exostoses Turricephaly Aniridia Microcephaly Abnormality of the scalp Nail dysplasia Abnormality of the nail Agenesis of permanent teeth 2-3 toe syndactyly Cupped ear Abnormality of the thorax Abnormality of the urinary system Abnormality of the fingernails Type I diabetes mellitus Abnormality of the hair Aplasia cutis congenita Hypohidrosis Recurrent urinary tract infections Fine hair Renal hypoplasia Hypotelorism Renal agenesis Abnormality of the skin Narrow nasal bridge Hypoplastic nipples Underdeveloped antitragus Aplasia cutis congenita of scalp 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Pyelonephritis Palpebral edema Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Widened posterior fossa


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Tapered finger, related diseases and genetic alterations Fever and Umbilical hernia, related diseases and genetic alterations Macrocephaly and Intellectual disability, severe, related diseases and genetic alterations Muscle weakness and Microtia, related diseases and genetic alterations