Frontal bossing, and Stroke

Diseases related with Frontal bossing and Stroke

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

Top matches:

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

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

High match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Other less relevant matches:

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Medium match 3M SYNDROME

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

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

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Stroke

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Dilatation

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short stature Neoplasm Hypertelorism Broad forehead Depressed nasal bridge Abnormality of the skeletal system Growth delay Scoliosis Ventriculomegaly Micrognathia Failure to thrive Seizures Cutis marmorata Dolichocephaly Anteverted nares Dilatation of the cerebral artery Hernia Exotropia Downslanted palpebral fissures Craniosynostosis Joint hypermobility Hypertension Retinopathy Nevus Vesicoureteral reflux Overgrowth Pes planus Malar flattening Thick vermilion border Hepatomegaly Arteriovenous malformation Delayed skeletal maturation Asymmetric growth Skeletal dysplasia Proptosis Inguinal hernia Long philtrum Telangiectasia of the skin Arnold-Chiari malformation Aortic aneurysm Joint laxity Generalized hypotonia Cognitive impairment Intrauterine growth retardation Pectus excavatum Syndactyly Arrhythmia Polymicrogyria Polydactyly Short nose Deeply set eye Prominent forehead Joint hyperflexibility Facial asymmetry

Rare Symptoms - Less than 30% cases

Renal hypoplasia Pigmentary retinopathy Hip dislocation Abnormality of the ribs Coarctation of aorta Abnormal form of the vertebral bodies Aortic dissection Brachydactyly Lymphedema Abnormal vertebral morphology Pointed chin Spina bifida occulta Corneal dystrophy Triangular face Hypopigmentation of the skin Hypoplasia of the ulna Conductive hearing impairment Coarse facial features Joint dislocation Jaundice Hepatosplenomegaly Elevated hepatic transaminase Irregular hyperpigmentation Carcinoma Abnormality of skin pigmentation Protruding ear Bifid uvula Narrow palate Recurrent fractures Striae distensae Talipes equinovarus Heart murmur Vertebral segmentation defect Aplasia/Hypoplasia of the corpus callosum Pectus carinatum Gingival overgrowth Mitral regurgitation Macrotia Hypertrichosis Hip dysplasia Full cheeks Aplasia/Hypoplasia of the cerebellum Delayed eruption of teeth Everted lower lip vermilion Wide nose Thick eyebrow Abnormality of the elbow Visceral angiomatosis Corneal opacity Wide mouth Abnormality of dental enamel Umbilical hernia Angina pectoris Osteopenia Kyphoscoliosis High palate Pes cavus Agenesis of corpus callosum Kyphosis Camptodactyly Pulmonary artery aneurysm Skeletal muscle atrophy Flexion contracture Thyroid carcinoma Attention deficit hyperactivity disorder Short neck Aortic regurgitation Arnold-Chiari type I malformation Patent ductus arteriosus Meningioma Hearing impairment Large earlobe Ventricular septal defect Finger syndactyly Hemihypertrophy Wide nasal bridge Abnormality of cardiovascular system morphology Hemimegalencephaly Hemangioma Capillary hemangioma Subcutaneous hemorrhage High forehead Multicystic kidney dysplasia Telangiectasia Low-set ears Abnormality of the skin Abnormality of the nervous system Postaxial polydactyly Postnatal growth retardation Arterial stenosis Microphthalmia Toe syndactyly Multiple cafe-au-lait spots Syringomyelia Clinodactyly Visual loss Edema Myopia Congestive heart failure Clinodactyly of the 5th finger Atrial septal defect Nevus flammeus Cryptorchidism Upslanted palpebral fissure Abnormal heart morphology Hypertonia Hypoplasia of the corpus callosum Motor delay Hypothyroidism Respiratory distress Bulbous nose Abnormality of nervous system morphology Narrow mouth Cerebral ischemia Foot polydactyly Hypermelanotic macule Decreased testicular size Hand polydactyly Leukemia Hyperactivity Hydronephrosis Thin upper lip vermilion Mandibular prognathia Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Hypospadias Narrow nose Severe short stature Hyperlordosis Midface retrusion Obsessive-compulsive behavior Overfolded helix Sparse eyebrow Small for gestational age Abnormality of the urinary system Micromelia Short chin Urinary incontinence Thin vermilion border Confusion Absent septum pellucidum Retinal detachment Optic atrophy Hernia of the abdominal wall C1-C2 subluxation Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Urinary glycosaminoglycan excretion Thoracolumbar kyphoscoliosis Hypoplastic cervical vertebrae Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Heparan sulfate excretion in urine Hip subluxation Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Enlarged tonsils Cervical subluxation Cervical spine instability Abnormality of the tympanic membrane Smooth philtrum Oral cleft Abnormality of the sternum Relative macrocephaly Abnormality of the metaphysis Ascites Platyspondyly Postaxial hand polydactyly Delayed ossification of the hand bones Abnormal mandibular ramus morphology Abnormality of premolar morphology Abnormal mandible coronoid process morphology Stiff interphalangeal joints Abnormality of glycosaminoglycan metabolism Mandibular condyle hypoplasia Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Thick lower lip vermilion Brachycephaly Narrow face Hyperreflexia Dandy-Walker malformation Generalized muscle weakness Iris coloboma Ichthyosis Talipes Ophthalmoplegia Coloboma Abnormality of the eye Telecanthus EEG abnormality Alopecia Blindness Neoplasm of the adrenal cortex Pachygyria Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Hamartomatous polyposis Neoplasm of the breast Intestinal polyposis Abnormality of the optic nerve Lipoma Hashimoto thyroiditis Hamartoma Multiple lipomas Intracranial hemorrhage Cerebral calcification Horseshoe kidney Delayed gross motor development Hyperphosphaturia Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Nevus sebaceous Epidermal nevus Cranial asymmetry Abnormality of dental color Adenoma sebaceum Cavernous hemangioma Porencephalic cyst Hypophosphatemic rickets Abnormality of finger Plagiocephaly Gangrene Genu recurvatum Osteomalacia Biparietal narrowing Neurofibromas Basal cell carcinoma Prominent occiput Abnormality of dental morphology Melanocytic nevus Rickets Precocious puberty Abnormality of vision Reduced tendon reflexes Cachexia Tall stature Short ribs Hypoplastic pelvis Arachnodactyly Abnormal cardiac septum morphology Retrognathia Osteoporosis Pain Cleft palate Increased vertebral height Hypoplastic pubic bone Horizontal ribs Hypoplastic ischia Enlarged thorax Abnormality of the cerebral vasculature Short 5th finger Mitral valve prolapse Thin ribs Disproportionate short stature Slender long bone Decreased fertility Short thorax Narrow pelvis bone Mild short stature Rocker bottom foot Neonatal respiratory distress Short long bone Scapular winging Congenital hip dislocation Chest pain Blue sclerae Subcutaneous nodule Mild myopia Broad thumb Lymphoma Neurological speech impairment Hypoglycemia Myopathy Muscle weakness Generalized arterial tortuosity Bicuspid pulmonary valve Spontaneous pneumothorax Descending thoracic aorta aneurysm Absent distal phalanges Ascending aortic dissection Protrusio acetabuli Dental crowding Dural ectasia Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Spondylolisthesis High anterior hairline Disproportionate tall stature Myopathic facies Ectopia lentis Bicuspid aortic valve Epicanthus Joint contracture of the hand Flared nostrils Abnormal diaphysis morphology Meckel diverticulum Vitamin D deficiency Delayed speech and language development Feeding difficulties Cavum septum pellucidum Sensorineural hearing impairment Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Axenfeld anomaly Atrial flutter Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Dilation of lateral ventricles Abnormality of the upper limb Pulmonary artery stenosis Glaucoma Severe global developmental delay Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Joint stiffness Pallor Mental deterioration Apnea Severe postnatal growth retardation Severe failure to thrive Megalencephaly Dyspnea Abdominal pain Respiratory insufficiency Varicose veins Recurrent respiratory infections Pneumonia Constipation Depressivity Headache Abnormality of the lower limb Splenomegaly Behavioral abnormality Abnormality of the dentition Diarrhea Vomiting Cardiomyopathy Coronal craniosynostosis Abnormality of the vasculature Synophrys Cirrhosis Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Prominent nose Round face Strabismus Hypodontia Microcornea Cataract Short distal phalanx of finger Flat face Hepatic failure Stage 5 chronic kidney disease Cutis marmorata telangiectatica congenita Anal atresia Delayed puberty Malabsorption Pulmonic stenosis Pruritus Short philtrum Scarring Abnormality of the liver Abnormality of the kidney Intellectual disability, mild Renal insufficiency Areflexia Blue nevus Nephrotic syndrome Skin erosion Glomerulosclerosis Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Prolonged neonatal jaundice Long nose Chorioretinal atrophy Right aortic arch Malnutrition Perisylvian polymicrogyria Portal hypertension Vascular ring Renal hypoplasia/aplasia Short lower limbs Hypercholesterolemia Capillary malformation Finger clinodactyly Hemivertebrae Facial hemangioma Leukocoria Progressive macrocephaly Renal dysplasia Displacement of the external urethral meatus Cholestasis Hypertriglyceridemia Carious teeth Abnormality of eye movement Anterior open bite Shallow orbits Communicating hydrocephalus Beaking of vertebral bodies Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Abnormality of the clavicle Abnormality of the skull Obstructive sleep apnea Recurrent lower respiratory tract infections Shock Peripheral visual field loss Hypoplastic ilia Protuberant abdomen Palpebral edema Hypoplasia of the odontoid process Short clavicles Protruding tongue Thoracic scoliosis Rhinitis Spinal canal stenosis Arthropathy Thickened calvaria Abnormal heart valve morphology Restrictive ventilatory defect Upper airway obstruction Purpura Flared metaphysis Broad femoral neck Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Acidosis Diaphyseal thickening Delayed ossification of carpal bones Rhinorrhea Conical tooth Abnormality of peripheral nerve conduction Myelopathy Sagittal craniosynostosis Hypoplasia of teeth Abnormal aortic valve morphology Constrictive median neuropathy Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Flared iliac wings Cor pulmonale Coronary artery atherosclerosis Multiple joint contractures Genu valgum Asthma Reduced bone mineral density Progressive neurologic deterioration Myocardial infarction Interphalangeal joint contracture of finger Intellectual disability, profound Lumbar hyperlordosis Cardiomegaly Abnormality of the cardiovascular system Microdontia Progressive visual loss Redundant skin Limitation of joint mobility Nephroblastoma Split hand Broad nasal tip Macroglossia Large for gestational age Sleep disturbance Neurodegeneration Cortical dysplasia High, narrow palate Inability to walk Abnormality of digit Hirsutism Aplasia/Hypoplasia of the skin Retinal degeneration Dry skin Recurrent otitis media Ischemic stroke Metatarsus adductus Cerebral palsy Toe walking Stridor Language impairment Hemiplegia Back pain Prominent supraorbital ridges Recurrent upper respiratory tract infections Increased intracranial pressure Hyperammonemia Sleep apnea Progressive hearing impairment Widely spaced teeth Cutaneous syndactyly Encephalocele Coxa vara Opacification of the corneal stroma Cutis laxa Spastic paraparesis Coxa valga Generalized hirsutism Elbow flexion contracture Abnormality of epiphysis morphology Thickened skin Long eyelashes Chronic diarrhea Left ventricular hypertrophy Decreased body weight Nevus sebaceus


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