Brachydactyly, and Ischemic stroke

Diseases related with Brachydactyly and Ischemic stroke

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


Top matches:

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

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

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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 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

Low match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

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

Top 5 symptoms//phenotypes associated to Brachydactyly and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Syndactyly Cone-shaped epiphysis Generalized hypotonia Scoliosis Micrognathia Abnormality of the skeletal system Cleft palate Patent ductus arteriosus Deep philtrum Microdontia Delayed skeletal maturation Microcephaly Pain Joint laxity Hypertelorism Atrial septal defect Dilatation Wide nasal bridge Retrognathia Growth delay Hearing impairment Sparse scalp hair Long philtrum Hypertension Hip dysplasia

Rare Symptoms - Less than 30% cases


Joint hypermobility Abnormality of cardiovascular system morphology Short nose Anteverted nares Macrocephaly Pulmonic stenosis Thin upper lip vermilion Low-set, posteriorly rotated ears Depressed nasal bridge Alopecia Muscular hypotonia Hepatic failure Joint hyperflexibility Failure to thrive Protruding ear Sparse hair Hypospadias Pes planus Anemia Recurrent respiratory infections Abnormal cardiac septum morphology Abnormality of the dentition Ventriculomegaly Umbilical hernia High palate Talipes equinovarus Hyperactivity Posteriorly rotated ears Proptosis Nevus Short palm Recurrent fractures Arterial stenosis Macrotia Polydactyly Hernia Polyhydramnios Pectus carinatum Dilatation of the cerebral artery Redundant skin Aplasia cutis congenita Abnormal heart morphology Exotropia Narrow palate Scapular winging Encephalopathy Short distal phalanx of finger Delayed myelination Small nail Malar flattening Vesicoureteral reflux Spondylolisthesis Limb undergrowth Avascular necrosis of the capital femoral epiphysis High anterior hairline Fine hair Inguinal hernia Muscle weakness Proportionate short stature Hypoplasia of the corpus callosum Ventricular septal defect Attention deficit hyperactivity disorder Clinodactyly Low-set ears Coarctation of aorta Absent septum pellucidum Obesity Short metacarpal Bicuspid aortic valve Bulbous nose Upslanted palpebral fissure Cardiomyopathy Rootless teeth Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Abdominal pain Alveolar ridge overgrowth Triangular mouth Renal insufficiency Developmental stagnation Specific learning disability Finger clinodactyly Aortic regurgitation Cutaneous syndactyly Increased susceptibility to fractures Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Decreased body weight Narrow pelvis bone Alveolar process hypoplasia Short middle phalanx of finger Multiple cafe-au-lait spots Disproportionate short stature Slender long bone Tibial bowing Birth length greater than 97th percentile Limited elbow extension Truncal obesity Aplasia/Hypoplasia of the eyebrow High pitched voice Flared metaphysis Abnormality of dental morphology Severe postnatal growth retardation Precocious puberty Nasal speech Reduced number of teeth Laryngomalacia Hypopigmented skin patches Acanthosis nigricans Narrow palpebral fissure Coxa vara Coxa valga Cafe-au-lait spot Abnormality of epiphysis morphology Severe intrauterine growth retardation Radial bowing Overtubulated long bones Pseudoepiphyses Generalized microdontia Straight clavicles Ivory epiphyses Projectile vomiting High iliac wings Proximal femoral epiphysiolysis Moyamoya phenomenon Thin clavicles Distal symphalangism Pseudoepiphyses of the metacarpals Forearm undergrowth Large sella turcica Increased intraocular pressure Abnormality of female external genitalia Shortening of all distal phalanges of the fingers Ulnar bowing Long clavicles Olfactory lobe agenesis Aplasia/Hypoplasia of the earlobes Abnormality of the cerebral vasculature Short 1st metacarpal Hypoplastic scapulae Tracheal stenosis Hypoplastic iliac wing Carotid artery stenosis Chest pain Myopia Wide mouth Sepsis Breech presentation Generalized myoclonic seizures Hemolytic anemia Downturned corners of mouth Wide nose Cirrhosis Ichthyosis Abnormality of eye movement Seborrheic dermatitis Webbed neck Developmental regression Apnea Abnormality of the eye Muscular hypotonia of the trunk Neonatal hypotonia Coarse facial features Narrow mouth Micropenis Respiratory failure Cerebral cortical atrophy Gliosis Epileptic encephalopathy Cerebellar hypoplasia Elevated alkaline phosphatase Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Central hypotonia Infantile spasms Prominent occiput Large for gestational age Overfolded helix Scaling skin Widely spaced teeth Neuronal loss in central nervous system Multicystic kidney dysplasia Cerebral visual impairment Gingival overgrowth Tall stature Postnatal microcephaly Large fontanelles Inflammatory abnormality of the skin Hypsarrhythmia Generalized-onset seizure Overgrowth Myoclonus Pneumonia Frontal bossing Mitral valve prolapse Hemoglobinuria Duplicated collecting system Ectopia lentis Micronodular cirrhosis Arnold-Chiari malformation Abnormality of the metaphysis Joint contracture of the hand Dental crowding Blue sclerae Bifid uvula Myopathic facies Postaxial polydactyly Arachnodactyly Dolichocephaly Broad forehead Craniosynostosis Camptodactyly Osteoporosis Pes cavus Pectus excavatum Hydrocephalus Aortic aneurysm Disproportionate tall stature Absent speech Descending thoracic aorta aneurysm Cerebral atrophy Cerebellar atrophy Short neck Hyperreflexia Hepatomegaly Flexion contracture Spasticity Generalized arterial tortuosity Bicuspid pulmonary valve Spontaneous pneumothorax Pulmonary artery aneurysm Striae distensae Absent distal phalanges Ascending aortic dissection Mild myopia Protrusio acetabuli Dural ectasia Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Aortic dissection Hypoplasia of dental enamel Multiple exostoses Hemiparesis Hyperpigmentation of the skin Abnormality of the ureter Generalized hyperpigmentation Hamartoma Aplasia/Hypoplasia of the skin Multiple lipomas Abnormality of the ear Opacification of the corneal stroma Lymphedema Aganglionic megacolon Transient ischemic attack Short palpebral fissure Abnormality of the cardiovascular system Astigmatism Facial asymmetry Coloboma Blepharophimosis Telecanthus Agenesis of corpus callosum Epicanthus Arachnoid cyst Eyelid coloboma Strabismus Exstrophy Osteopenia Hypogonadism Dysarthria Ataxia Ossifying fibroma Anisometropia Gastrointestinal atresia Abnormal conjunctiva morphology Laryngeal hypoplasia Lower limb asymmetry Epidermal nevus Abnormality of the bladder Parietal bossing Abnormality of the penis Epibulbar dermoid Fibroma Bladder exstrophy Epispadias Abnormality of nervous system morphology Feeding difficulties Neoplasm Hyperlordosis Hyperammonemia Progressive proximal muscle weakness Oligodactyly Spastic diplegia Abnormality of the coagulation cascade Cutis marmorata Portal hypertension Patent foramen ovale Ventricular hypertrophy Dystrophic toenail Pulmonary arterial hypertension Ascites Abnormality of the cerebral white matter Severe global developmental delay Proximal muscle weakness Splenomegaly Congestive heart failure Myopathy Motor delay Right ventricular hypertrophy Calcinosis Thromboembolic stroke Right atrial enlargement Paroxysmal atrial fibrillation Ventricular extrasystoles Ventricular tachycardia Atrial fibrillation Syncope Tachycardia Hypertensive retinopathy Short phalanx of finger Retinopathy Calcinosis cutis Prominent superficial veins Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Hypersplenism Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Arthralgia Spastic paraplegia Epidermal acanthosis Hydrometrocolpos Redundant skin in infancy Multiple long-bone exostoses Scapular exostoses Rib exostoses Persistent cloaca Mild postnatal growth retardation Aplasia/Hypoplasia of the mandible Absent toe Prune belly Intrauterine growth retardation Thick nasal alae Vaginal atresia Oligospermia Fragile nails Spinal cord compression Cone-shaped epiphyses of the phalanges of the hand Exostoses Increased number of teeth Preaxial polydactyly Sensorineural hearing impairment Downslanted palpebral fissures Abnormal palate morphology Narrow chest Type II diabetes mellitus Sloping forehead Convex nasal ridge Underdeveloped nasal alae Prominent nose Full cheeks Abnormality of skin pigmentation Dry skin Micromelia Hypermetropia Vomiting Prominent nasal bridge Microtia Postnatal growth retardation Skeletal dysplasia High forehead Severe short stature Clinodactyly of the 5th finger Headache Intellectual disability, mild Recurrent upper respiratory tract infections Joint dislocation Hypotrichosis Sparse lateral eyebrow Thin nail Flat capital femoral epiphysis Pseudohypoparathyroidism Leukonychia Thin eyebrow Concave nail Spastic ataxia Slow-growing hair Progressive spastic paraplegia Cone-shaped epiphyses of the middle phalanges of the hand Short finger Short metatarsal Infantile muscular hypotonia Osteoarthritis Dental malocclusion Delayed eruption of teeth Smooth philtrum Paraplegia Carious teeth Pear-shaped nose Abnormally low-pitched voice Bilateral single transverse palmar creases Finger syndactyly Gynecomastia Bone pain Recurrent urinary tract infections Growth hormone deficiency Ectodermal dysplasia Thick eyebrow Talipes Genu valgum Delayed puberty Joint stiffness Coxa magna Conductive hearing impairment Deeply set eye Delayed speech and language development Cognitive impairment Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Abnormality of the pons



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