Hypertension, and Short neck

Diseases related with Hypertension and Short neck

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


Top matches:

Medium match X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY


X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Medium match COG1-CDG


COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Medium match AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

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Other less relevant matches:

Medium 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

Medium match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Medium 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

Medium match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Medium match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


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 Short neck

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hypertension and Short neck. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Wide nasal bridge High palate Micrognathia Hypertelorism Scoliosis Congestive heart failure Cardiomyopathy Talipes equinovarus Respiratory insufficiency Microcephaly Growth delay Flexion contracture Clinodactyly Long philtrum Anteverted nares Pectus excavatum Epicanthus Ptosis Rhizomelia Limb undergrowth Platyspondyly Low-set ears Myopathy Depressed nasal bridge Muscle weakness Cleft palate

Rare Symptoms - Less than 30% cases


Areflexia Hyperlordosis Generalized hirsutism Hepatic fibrosis Postaxial hand polydactyly Finger syndactyly Nystagmus Skeletal dysplasia Short ribs Polydactyly Cardiomegaly Micromelia Patent ductus arteriosus Lumbar hyperlordosis Prominent forehead Delayed skeletal maturation Abnormal lung morphology Abnormal electroretinogram Hernia Feeding difficulties Hypoventilation Hepatomegaly Bilateral ptosis Acidosis Arthrogryposis multiplex congenita Abnormality of the foot Renal cyst Chronic kidney disease Blepharophimosis Renal insufficiency Abnormality of the metaphysis Restrictive ventilatory defect Webbed neck Everted lower lip vermilion Ovoid vertebral bodies Strabismus Sensorineural hearing impairment Midface retrusion Low posterior hairline Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Microtia Dilatation Postnatal growth retardation Low-set, posteriorly rotated ears Thin upper lip vermilion Narrow mouth Muscular hypotonia Gait disturbance Abnormal facial shape Failure to thrive Respiratory failure Hypertrophic cardiomyopathy Ventricular hypertrophy Left ventricular hypertrophy Back pain Smooth philtrum Osteopenia Vertebral segmentation defect Pain Skeletal muscle atrophy Coxa valga Failure to thrive in infancy Broad philtrum Cholangitis Syndactyly Congenital, generalized hypertrichosis Biliary cirrhosis High anterior hairline Bile duct proliferation Bilateral coxa valga Polysplenia Cutaneous finger syndactyly Cuboid-shaped vertebral bodies Abnormal heart morphology Cystic hygroma Cloverleaf skull Telecanthus Inguinal hernia Camptodactyly Hypermetropia Ophthalmoplegia Retinopathy Joint stiffness Protruding ear Curly eyelashes Deeply set eye Splenomegaly Alopecia Abnormality of the dentition Concentric hypertrophic cardiomyopathy Fused teeth Metopic synostosis Horizontal ribs Erlenmeyer flask deformity of the femurs Portal fibrosis Rod-cone dystrophy Nephronophthisis Cholestasis Proteinuria Abnormality of the pinna Craniosynostosis Sparse hair Congenital hypertrophy of left ventricle Dolichocephaly Stage 5 chronic kidney disease Full cheeks Ectodermal dysplasia Microdontia Elevated hepatic transaminase Retrognathia Narrow forehead Hypoplastic ischiopubic rami Broad first metatarsal Joint laxity Cutis laxa Mesomelia Sparse eyebrow Upslanted palpebral fissure Preaxial polydactyly Patent foramen ovale Widely spaced teeth Astigmatism High forehead Plagiocephaly Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Polyhydramnios Hydrops fetalis Abnormality of eye movement Generalized hypertrichosis Arachnodactyly Delayed speech and language development Umbilical hernia Coarse facial features Osteoporosis Recurrent infections Intellectual disability, mild Macrocephaly Internally rotated shoulders Wide mouth Exophoria Firm muscles Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Abnormal heart valve morphology Anxiety Thick eyebrow Round ear Accelerated skeletal maturation Metaphyseal widening Large for gestational age Pyloric stenosis Prominent supraorbital ridges Flared metaphysis Broad hallux Bicuspid aortic valve Low anterior hairline Short distal phalanx of finger Lymphedema Gingival overgrowth Pericardial effusion Long eyelashes Hypertrichosis Thick lower lip vermilion Thick vermilion border Congenital finger flexion contractures Thin ribs Abnormality of skin pigmentation Esodeviation Decreased muscle mass Bilateral talipes equinovarus Mask-like facies Broad hallux phalanx Congenital contracture Adducted thumb Bilateral single transverse palmar creases Narrow face Macular dystrophy Joint contracture of the hand Elevated alkaline phosphatase Deep plantar creases Abnormality of retinal pigmentation Wide intermamillary distance Large sella turcica Triangular face Broad ribs Thick upper lip vermilion Decreased palmar creases Abnormality of the rib cage Thickened calvaria Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Retinal fold Short hallux Tapetoretinal degeneration Overlapping fingers Long fingers Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Keratoconus Abnormality of the sternum Tarsal synostosis Abnormality of the hip bone Keratoglobus Respiratory tract infection Brachydactyly Cryptorchidism Hypoplasia of penis Pigmentary retinopathy Neurological speech impairment Prominent nasal bridge Hypogonadism Obesity Iliac crest serration Multicystic kidney dysplasia Dysplastic sacrum Severe platyspondyly Squared iliac bones Hypoplastic ischia Metaphyseal cupping Spondylometaphyseal dysplasia Delayed epiphyseal ossification Nephrotic syndrome Hypoplasia of the ovary Hypokinesia Nemaline bodies Anemia Seizures Limitation of neck motion Cervical C2/C3 vertebral fusion Acetabular dysplasia Fused cervical vertebrae Thoracolumbar scoliosis Medial flaring of the eyebrow Centrally nucleated skeletal muscle fibers Mild short stature Frequent falls Underdeveloped nasal alae Bulbous nose Falls Motor delay Bell-shaped thorax Deep philtrum Hypoplasia of the corpus callosum Skeletal muscle hypertrophy Scapuloperoneal weakness Stiff neck Axial muscle weakness Limb-girdle muscle weakness Rimmed vacuoles Spinal rigidity Dysphonia Hip flexor weakness Scapular winging Muscular dystrophy Proximal muscle weakness Rigidity Elevated serum creatine phosphokinase Arrhythmia Dysphagia Limited neck flexion Posteriorly rotated ears Short long bone Small for gestational age Tachypnea Wormian bones Wide anterior fontanel Large fontanelles Pulmonary arterial hypertension Round face Wide nose Muscular hypotonia of the trunk Kyphoscoliosis Short nose Abnormal isoelectric focusing of serum transferrin Butterfly vertebrae Enlarged cisterna magna Pierre-Robin sequence Progressive microcephaly Intellectual disability, moderate Peripheral neuropathy Cerebral atrophy Delayed calcaneal ossification Osteoarthritis Genu varum Growth abnormality Sleep apnea Coxa vara Abnormality of epiphysis morphology Abnormal form of the vertebral bodies High myopia Bowing of the legs Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Retinal degeneration Paresthesia Spondyloepiphyseal dysplasia Vestibular dysfunction Hip dislocation Cervical myelopathy Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Flattened epiphysis Short thorax Limited elbow movement Myelopathy Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Genu valgum Broad forehead Absent speech Delayed myelination Decreased liver function Renal dysplasia Pachygyria Renal hypoplasia Epileptic encephalopathy Increased serum lactate Hepatic steatosis Severe muscular hypotonia Lactic acidosis Lethargy Neonatal hypotonia Cerebral cortical atrophy Myoclonus Hyporeflexia Encephalopathy Fasciculations CNS hypomyelination Pectus carinatum Respiratory distress Autoimmunity Apnea Arthritis Glaucoma Severe short stature Malar flattening Kyphosis Myopia Hyponatremia Cataract Microvesicular hepatic steatosis Tongue fasciculations Breech presentation Increased CSF lactate Renal tubular acidosis Hyperkalemia Widened posterior fossa



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