Brachydactyly, and Stroke

Diseases related with Brachydactyly and Stroke

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


Top matches:

Medium match BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME


Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME Is also known as bilginturan syndrome|brachydactyly type e, with short stature and hypertension|brachydactyly with hypertension|brachydactyly, type e, with short stature and hypertension|bilginturan brachydactyly

Related symptoms:

  • Short stature
  • Hypertension
  • Brachydactyly
  • Retinopathy
  • Stroke


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME

Medium match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Medium match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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Other less relevant matches:

Medium match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Low match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match STROKE, ISCHEMIC


A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes.Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; {612309}), the renin-angiotensin-aldosterone system (see, e.g., ACE; {106180}), homocysteine (see, e.g., MTHFR; {607093}), and lipoprotein metabolism (see, e.g., APOE; {107741}).See also hemorrhagic stroke, or intracerebral hemorrhage (ICH ).

STROKE, ISCHEMIC Is also known as cerebral infarction|cerebrovascular accident

Related symptoms:

  • Stroke
  • Cerebral hemorrhage


SOURCES: OMIM MENDELIAN

More info about STROKE, ISCHEMIC

Top 5 symptoms//phenotypes associated to Brachydactyly and Stroke

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Growth delay Abnormal facial shape Generalized hypotonia Micrognathia Delayed skeletal maturation Cone-shaped epiphysis Protruding ear Coarctation of aorta Short distal phalanx of finger Upslanted palpebral fissure Hypertension Depressed nasal bridge Wide nasal bridge Vesicoureteral reflux Macrotia Microcephaly Deep philtrum Scoliosis Sparse scalp hair Microdontia Long philtrum Hepatic failure Hip dysplasia Atrial septal defect Syndactyly Cleft palate

Rare Symptoms - Less than 30% cases


Fine hair Short metacarpal Dilatation Obesity Patent ductus arteriosus Clinodactyly of the 5th finger Polyhydramnios Sparse hair Alopecia Nevus Hypospadias Abnormality of cardiovascular system morphology Short nose Anteverted nares Macrocephaly Delayed puberty Retrognathia Redundant skin Intellectual disability, mild Low-set, posteriorly rotated ears Strabismus Abnormality of the ureter Coarse facial features Exotropia Proportionate short stature Recurrent respiratory infections Hepatomegaly Posteriorly rotated ears Clinodactyly Hypertelorism Cirrhosis Hypoplasia of the corpus callosum Joint hyperflexibility Absent septum pellucidum Thin upper lip vermilion Multicystic kidney dysplasia Anemia Intrauterine growth retardation Lymphedema Downslanted palpebral fissures Muscular hypotonia Ventricular septal defect Failure to thrive Low-set ears Attention deficit hyperactivity disorder Pulmonic stenosis Dilatation of the cerebral artery Avascular necrosis of the capital femoral epiphysis Encephalopathy Small nail Muscle weakness Neoplasm Scapular winging Aplasia cutis congenita Arterial stenosis Limb undergrowth Ventriculomegaly Portal hypertension Prominent nose Bulbous nose Congestive heart failure Joint laxity Delayed myelination Hyperactivity Chronic hepatic failure Deeply set eye Conductive hearing impairment Abnormality of skin pigmentation Abnormality of the dentition Retinopathy Inflammatory abnormality of the skin Gingival overgrowth Neonatal hypotonia Muscular hypotonia of the trunk Abnormality of the eye Tall stature Apnea Developmental regression Wide mouth Postnatal microcephaly Hemolytic anemia Large fontanelles Wide nose Abnormality of eye movement Webbed neck Downturned corners of mouth Ichthyosis Sepsis Hypsarrhythmia Generalized-onset seizure Overgrowth Neuronal loss in central nervous system Generalized myoclonic seizures Epileptic encephalopathy Gliosis Narrow mouth Generalized microdontia Micropenis Hypoplastic scapulae Pseudoepiphyses Large sella turcica Narrow pelvis bone Abnormality of female external genitalia Shortening of all distal phalanges of the fingers Ulnar bowing Long clavicles Aplasia/Hypoplasia of the earlobes Abnormality of the cerebral vasculature Short 1st metacarpal Tracheal stenosis Pseudoepiphyses of the metacarpals Hypoplastic iliac wing Increased intraocular pressure Radial bowing Severe postnatal growth retardation Severe intrauterine growth retardation Multiple cafe-au-lait spots Disproportionate short stature Slender long bone Tibial bowing Limited elbow extension Forearm undergrowth Distal symphalangism Respiratory failure High palate Cerebral cortical atrophy Myoclonus Cerebellar hypoplasia Pneumonia Absent speech Cerebral atrophy Malar flattening Cerebellar atrophy Short neck Hyperreflexia Flexion contracture Thin clavicles Spasticity Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Rootless teeth Alveolar process hypoplasia Overtubulated long bones Straight clavicles Ivory epiphyses Projectile vomiting High iliac wings Proximal femoral epiphysiolysis Moyamoya phenomenon Cerebral visual impairment Inguinal hernia Widely spaced teeth Corneal dystrophy Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Heart murmur Glomerulosclerosis Renal hypoplasia/aplasia Hypercholesterolemia Posterior embryotoxon Spina bifida occulta Finger clinodactyly Hemivertebrae Pointed chin Abnormal vertebral morphology Renal dysplasia Abnormal form of the vertebral bodies Cholestasis Hypertriglyceridemia Renal hypoplasia Nephrotic syndrome Renal tubular acidosis Exocrine pancreatic insufficiency Tetralogy of Fallot Biliary atresia Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Abnormal anterior chamber morphology Hepatocellular carcinoma Butterfly vertebrae Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Abnormality of the ribs Pigmentary retinopathy Elevated alkaline phosphatase Aplasia/Hypoplasia of the eyebrow Cryptorchidism Cataract Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Breech presentation Frontal bossing Developmental stagnation High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Central hypotonia Infantile spasms Prominent occiput Large for gestational age Overfolded helix Scaling skin Myopia Renal insufficiency Specific learning disability Broad forehead Gastrointestinal hemorrhage Round face Triangular face Hypodontia Microcornea Hypopigmentation of the skin Flat face Stage 5 chronic kidney disease Anal atresia Malabsorption Pruritus Short philtrum Visual loss Scarring Abnormality of the liver Craniosynostosis Abnormality of the kidney Carcinoma Elevated hepatic transaminase Hepatosplenomegaly Jaundice Acidosis Brachycephaly Prominent forehead Areflexia Truncal obesity Hypermetropia High pitched voice Bladder exstrophy Abnormal conjunctiva morphology Exstrophy Laryngeal hypoplasia Epidermal nevus Abnormality of the bladder Parietal bossing Abnormality of the penis Epibulbar dermoid Fibroma Epispadias Anisometropia Abnormality of nervous system morphology Lower limb asymmetry Eyelid coloboma Transient ischemic attack Arachnoid cyst Generalized hyperpigmentation Hamartoma Aplasia/Hypoplasia of the skin Multiple lipomas Abnormality of the ear Gastrointestinal atresia Ossifying fibroma Hyperpigmentation of the skin Arthralgia Delayed eruption of teeth Smooth philtrum Paraplegia Carious teeth Hypotrichosis Spastic paraplegia Pectus carinatum Hyperlordosis Pes planus Osteopenia Thromboembolic stroke Hypogonadism Tachycardia Syncope Atrial fibrillation Dysarthria Pain Ventricular tachycardia Ataxia Ventricular extrasystoles Paroxysmal atrial fibrillation Opacification of the corneal stroma Aganglionic megacolon Osteoarthritis Ischemic stroke Calcinosis Dystrophic toenail Right ventricular hypertrophy Progressive proximal muscle weakness Oligodactyly Spastic diplegia Abnormality of the coagulation cascade Cutis marmorata Patent foramen ovale Hyperammonemia Esophageal varix Ventricular hypertrophy Pulmonary arterial hypertension Hernia Ascites Abnormal heart morphology Abnormality of the cerebral white matter Severe global developmental delay Abnormal cardiac septum morphology Proximal muscle weakness Umbilical hernia Prominent superficial veins Right ventricular failure Short palpebral fissure Motor delay Abnormality of the cardiovascular system Short palm Astigmatism Facial asymmetry Coloboma Blepharophimosis Telecanthus Proptosis Agenesis of corpus callosum Epicanthus Aplasia cutis congenita of scalp Feeding difficulties Myopathy Splenomegaly Right atrial enlargement Calcinosis cutis Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Hypersplenism Cavernous hemangioma Dental malocclusion Narrow palate Flared metaphysis Sensorineural hearing impairment Prominent nasal bridge Microtia Postnatal growth retardation Skeletal dysplasia High forehead Severe short stature Headache Vomiting Short phalanx of finger Redundant skin in infancy Micromelia Multiple long-bone exostoses Scapular exostoses Rib exostoses Persistent cloaca Mild postnatal growth retardation Aplasia/Hypoplasia of the mandible Absent toe Hydrometrocolpos Prune belly Multiple exostoses Narrow chest Dry skin Vaginal atresia Coxa vara Short middle phalanx of finger Abnormality of dental morphology Precocious puberty Nasal speech Reduced number of teeth Laryngomalacia Hypopigmented skin patches Acanthosis nigricans Narrow palpebral fissure Coxa valga Full cheeks Cafe-au-lait spot Abnormality of epiphysis morphology Hypoplasia of dental enamel Abnormality of the metaphysis Hemiparesis Epidermal acanthosis Type II diabetes mellitus Sloping forehead Convex nasal ridge Underdeveloped nasal alae Thick nasal alae Oligospermia Infantile muscular hypotonia Flat capital femoral epiphysis Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Thin nail Pseudohypoparathyroidism Hypertensive retinopathy Leukonychia Thin eyebrow Concave nail Spastic ataxia Slow-growing hair Spondylolisthesis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Short metatarsal Ivory epiphyses of the distal phalanges of the hand Cognitive impairment Fragile nails Bone pain Spinal cord compression Cone-shaped epiphyses of the phalanges of the hand Exostoses Increased number of teeth Preaxial polydactyly Recurrent upper respiratory tract infections Abnormal palate morphology Joint dislocation Bilateral single transverse palmar creases Gynecomastia Recurrent urinary tract infections Delayed speech and language development Growth hormone deficiency Ectodermal dysplasia Thick eyebrow Joint hypermobility Talipes Genu valgum Finger syndactyly Joint stiffness Polydactyly Talipes equinovarus Cerebral hemorrhage



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