Hypertension, and Short distal phalanx of finger

Diseases related with Hypertension and Short distal phalanx of finger

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

Top matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

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

Other less relevant matches:

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

Low match KEUTEL SYNDROME

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

Top 5 symptoms//phenotypes associated to Hypertension and Short distal phalanx of finger

Symptoms // Phenotype % cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Delayed eruption of teeth Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Short distal phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Short stature Cataract Hearing impairment Osteoporosis Global developmental delay Full cheeks Brachydactyly Abnormality of the dentition Seizures Thick vermilion border Hypotrichosis Frontal bossing Sparse hair Pulmonic stenosis Prominent supraorbital ridges Ectodermal dysplasia Respiratory tract infection Prominent forehead Recurrent respiratory infections Thin skin Narrow chest Dilatation Hoarse voice Macrotia Everted upper lip vermilion Alopecia Absent eyebrow Pulmonary arterial hypertension Patent ductus arteriosus

Rare Symptoms - Less than 30% cases

Skeletal dysplasia Generalized hirsutism Gingival overgrowth Abnormality of the metaphysis Hypertelorism Abnormal heart morphology Hypertrichosis Thick lower lip vermilion Wide nasal bridge Proptosis Retrognathia Thick eyebrow Macrocephaly Coarse facial features Short neck Finger syndactyly Wide mouth Cardiomyopathy Abnormality of the kidney Intellectual disability, mild Umbilical hernia Abnormal cardiac septum morphology Accelerated skeletal maturation Osteopenia Coxa valga Sparse and thin eyebrow Bicuspid aortic valve Hydronephrosis Scoliosis Sensorineural hearing impairment Muscular hypotonia Hyperhidrosis High palate Shortening of all distal phalanges of the fingers Pulmonary artery stenosis Growth hormone deficiency Dyspnea Dermal atrophy Growth abnormality Recurrent otitis media Small nail Ventricular septal defect Metaphyseal widening Abnormal facial shape Hyperkeratosis Osteolytic defects of the phalanges of the hand Tetralogy of Fallot Generalized hypertrichosis Growth delay Broad ribs Micrognathia Short hallux Broad distal phalanx of finger Pain Pericardial effusion Flared metaphysis Large for gestational age Thickened calvaria Anxiety Round face Heat intolerance Sparse body hair Pneumonia Pectus excavatum Hypoplastic nipples Hypodontia Microdontia Short nose Depressed nasal ridge Soft skin Anodontia Anterior hypopituitarism Agenesis of permanent teeth Absent nipple Delayed cranial suture closure Sparse scalp hair Underdeveloped nasal alae Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Periorbital wrinkles Periorbital hyperpigmentation Hypohidrosis Short clavicles Protruding ear Intellectual disability, severe Anhidrosis Asthma Cutis laxa Calcinosis Talipes equinovarus Sparse eyelashes Atrial septal defect Type I diabetes mellitus Aplasia/Hypoplasia of the eyebrow Cognitive impairment Everted lower lip vermilion Cutaneous finger syndactyly Cleft palate Failure to thrive Joint hypermobility Cortical dysplasia Narrow nasal ridge Aplasia cutis congenita Portal hypertension Aplasia/Hypoplasia of the skin Hypoplastic left heart Cutis marmorata Hypoplasia of teeth Cutis marmorata telangiectatica congenita Prominent superficial veins Periventricular cysts Supernumerary nipple Aplastic/hypoplastic toenail Absent toe Oligodactyly Esophageal varix Absent hand Absent fingernail Aplasia cutis congenita of scalp Periventricular leukomalacia Venous malformation Abnormal pulmonary valve morphology Congenital hepatic fibrosis Abnormality of the upper limb Central hypotonia Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Chylothorax Double outlet right ventricle Porencephalic cyst Coarctation of aorta Abnormality of the metacarpal bones Stiff elbow Cirrhosis Cleft upper lip Talipes Abnormality of the fingertips Toe syndactyly Increased facial adipose tissue Leukemia Progressive clavicular acroosteolysis Foamy urine Acrania Microcephaly Foot pain Prominent nasal bridge EEG abnormality Intrauterine growth retardation Cerebellar hypoplasia Ventriculomegaly Hypoplasia of the corpus callosum Thrombocytopenia Hydrocephalus Hypertonia Abnormality of cardiovascular system morphology Microphthalmia Acroosteolysis of distal phalanges (feet) Thin clavicles Leukopenia Esotropia Meningitis Aortic valve stenosis Telangiectasia Pachygyria Encephalocele Split hand Hemiparesis Syndactyly Generalized lipodystrophy Nail dysplasia Wide cranial sutures Breast aplasia Increased adipose tissue around the neck Hematemesis Loss of subcutaneous adipose tissue in limbs Gastrointestinal hemorrhage Mottled pigmentation Bird-like facies Premature birth Limb-girdle muscle atrophy Osteolytic defects of the distal phalanges of the hand Aplasia/Hypoplasia of the clavicles Ascites Polymicrogyria Imperforate hymen Hypoplastic scapulae Aplasia cutis congenita over posterior parietal area Increased bone mineral density Exocrine pancreatic insufficiency Congenital hypothyroidism Basal ganglia calcification Polyphagia Short finger Prolonged QT interval Short metatarsal Reduced bone mineral density Conjunctivitis Hypocalcemia Hypergonadotropic hypogonadism Short toe Spinal cord compression Subcutaneous nodule Hypoplasia of dental enamel Choreoathetosis Short metacarpal Chest pain Muscle cramps Confusion Paresthesia Irritability Hypoglycemia Hypothyroidism Hypogonadism Oligomenorrhea Hyperphosphatemia Depressivity Elevated calcitonin Hyperostosis frontalis interna Osteoma cutis Pituitary resistance to thyroid hormone Broad distal phalanx of the thumb Choroid plexus calcification Low urinary cyclic AMP response to PTH administration Short fifth metatarsal Short 3rd metacarpal Subcutaneous calcification Abdominal symptom Ectopic ossification Abnormal platelet function Short 4th metacarpal Hypocalcemic tetany Myoclonic spasms Band keratopathy Prolactin deficiency Hypocalcemic seizures Parathyroid hyperplasia Pseudohypoparathyroidism Laryngeal dystonia Constrictive median neuropathy Short 5th metacarpal Tetany Elevated circulating parathyroid hormone level Hyporeflexia Obesity Aplasia cutis congenita on trunk or limbs Intestinal malrotation Ectopic kidney Melanocytic nevus Coarse hair Wide anterior fontanel Bowing of the long bones Omphalocele Osteoarthritis Renal hypoplasia Abnormality of the ribs Oligohydramnios Mitral valve prolapse Vesicoureteral reflux Short thorax Nevus Joint hyperflexibility Genu valgum Facial asymmetry Hip dislocation Conductive hearing impairment Pes planus Kyphoscoliosis High forehead Respiratory insufficiency Gait disturbance Motor delay Thoracic hypoplasia Long fingers Diarrhea Prune belly Nystagmus Anterior concavity of thoracic vertebrae Obtuse angle of mandible Ureteral obstruction Anisospondyly Abnormality of the pubic bone Frontal hirsutism Hypoplastic facial bones Megacystis Urethral atresia Long neck Ureteral stenosis Limited elbow extension Tricuspid valve prolapse Sclerosis of skull base Complete atrioventricular canal defect Craniofacial hyperostosis Small face Abnormal cortical bone morphology Hypoplastic pelvis Misalignment of teeth Cone-shaped epiphyses of the phalanges of the hand Short humerus Atrioventricular canal defect Tibial bowing Vertebral compression fractures Neoplasm Progeroid facial appearance Concentric hypertrophic cardiomyopathy Malar flattening Optic atrophy Widened posterior fossa Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Broad first metatarsal Cuboid-shaped vertebral bodies Bilateral coxa valga Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Curly eyelashes Respiratory failure Large sella turcica Deep plantar creases Esodeviation Broad hallux phalanx Thick upper lip vermilion Ovoid vertebral bodies Thin ribs Abnormal heart valve morphology Broad hallux Elevated alkaline phosphatase Pyloric stenosis Midface retrusion Carcinoma Lymphedema Deep philtrum Chronic obstructive pulmonary disease Recurrent bronchitis Chronic sinusitis Irregular vertebral endplates Epiphyseal stippling Recurrent sinusitis Mixed hearing impairment Emphysema Aortic aneurysm Nasal speech Progressive hearing impairment Infertility Spontaneous abortion Leukodystrophy Sinusitis Short thumb Short phalanx of finger Sloping forehead Cerebral calcification Memory impairment Otitis media Wide nose Long face Low anterior hairline Long eyelashes Peripheral pulmonary artery stenosis Rhinitis Craniosynostosis Rod-cone dystrophy Renal insufficiency Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Abnormal oral mucosa morphology Concave nail Conical tooth Taurodontia Absent eyelashes Brittle hair Smooth philtrum Dysphonia Short chin Eczema Hypoplasia of the maxilla Dry skin Immunodeficiency Respiratory distress Fever Feeding difficulties Palmoplantar hyperkeratosis Oligodontia Hypermetropia Stage 5 chronic kidney disease Low posterior hairline Broad phalanx of the toes Ventricular hypertrophy Cardiomegaly Platyspondyly Hypertrophic cardiomyopathy Delayed skeletal maturation Recurrent infections Long philtrum Anteverted nares Epicanthus Delayed speech and language development Pes valgus Thin vermilion border Sagittal craniosynostosis Elevated serum creatinine Nephronophthisis Chronic kidney disease Cone/cone-rod dystrophy Recurrent pneumonia Bone marrow hypocellularity Hepatic fibrosis Limb undergrowth Hip dysplasia Nephropathy Thyroid carcinoma Short nail Down-sloping shoulders Nail dystrophy Hypertriglyceridemia Epidermal acanthosis Nephrotic syndrome Abnormality of the cardiovascular system Convex nasal ridge Abnormality of the skin Dental malocclusion Sepsis Abnormality of skin pigmentation Delayed puberty Muscular dystrophy Dental crowding Scarring Paralysis Joint stiffness Postnatal growth retardation Proximal muscle weakness Rigidity Narrow mouth Diabetes mellitus Hypospadias Myopathy Edema Large fontanelles Insulin resistance Muscle weakness Focal segmental glomerulosclerosis Narrow nose Insulin-resistant diabetes mellitus Premature loss of teeth Arthropathy Prematurely aged appearance Spinal rigidity Reduced subcutaneous adipose tissue Hypermelanotic macule High pitched voice Glucose intolerance Hyperostosis Hyperpigmentation of the skin Hyperglycemia Congenital muscular dystrophy Glomerulosclerosis Hyperinsulinemia Lipodystrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Osteolysis Wormian bones Increased body weight Flexion contracture Mesiodens Papillary thyroid carcinoma Hepatomegaly Hepatosplenomegaly Polyhydramnios Mandibular prognathia Polydactyly Posteriorly rotated ears Hernia Splenomegaly Congestive heart failure Downslanted palpebral fissures Myopia Cartilaginous ossification of larynx Congenital cataract Premature fusion of phalangeal epiphyses Cartilaginous ossification of nose Calcification of the auricular cartilage Costal cartilage calcification Soft, doughy skin Tracheal atresia Calcification of cartilage Arterial calcification Pulmonary artery hypoplasia Obstructive lung disease Abdominal aortic aneurysm Broad forehead Synophrys Short distal phalanx of toe Aortic root aneurysm Prominent eyelashes Aortic arch aneurysm Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Protruding tongue Anonychia Bulbous nose Hemangioma Spina bifida occulta Intellectual disability, progressive Hemivertebrae Thickened skin Nephrolithiasis Intellectual disability, profound Bilateral sensorineural hearing impairment Overgrowth Macroglossia Hirsutism Broad 1st metacarpal


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