Frontal bossing, and Ventricular hypertrophy

Diseases related with Frontal bossing and Ventricular hypertrophy

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

Top matches:

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.

HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Is also known as hypophosphatemia, x-linked|hpdr|hhrh|hyp|xlh|hypophosphatemic vitamin d-resistant rickets|vitamin d-resistant rickets, x-linked

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

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

Other less relevant matches:

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

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

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Top 5 symptoms//phenotypes associated to Frontal bossing and Ventricular hypertrophy

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Growth delay Abnormal facial shape Scoliosis Macrocephaly Patent ductus arteriosus Feeding difficulties High palate Strabismus Cleft palate Patent foramen ovale Depressed nasal bridge Epicanthus Abnormal heart morphology Craniosynostosis Abnormality of the skeletal system Short neck Wide nasal bridge Generalized hypotonia Hearing impairment Left ventricular hypertrophy Hydrocephalus Mitral regurgitation Brachydactyly Metatarsus adductus Hernia Midface retrusion Renal cyst Cryptorchidism Microdontia Blepharophimosis Dolichocephaly Kyphosis Muscular hypotonia Widely spaced teeth Malar flattening Upslanted palpebral fissure Autism Gastroesophageal reflux Kyphoscoliosis Joint laxity Abnormal cardiac septum morphology Prominent forehead Narrow mouth Hypoplasia of the corpus callosum Seizures Behavioral abnormality Sensorineural hearing impairment Hypertension Abnormality of the dentition Posteriorly rotated ears Spinal canal stenosis Inguinal hernia Cognitive impairment Delayed speech and language development

Rare Symptoms - Less than 30% cases

Hip dysplasia Coloboma Cystic hygroma Cutis laxa Narrow palpebral fissure Rhizomelia Postaxial hand polydactyly Camptodactyly of finger Full cheeks Synophrys Everted lower lip vermilion Cleft upper lip Bifid uvula Abnormality of the skin Interphalangeal joint contracture of finger Abnormality of the ribs Flexion contracture Narrow chest Hypertrichosis Generalized hirsutism Abnormal heart valve morphology Nyctalopia Retinal degeneration Endocardial fibroelastosis 11 pairs of ribs Sagittal craniosynostosis Aortic root aneurysm Abnormality of the pinna Elevated hepatic transaminase Horseshoe kidney Joint stiffness Low-set, posteriorly rotated ears Visual impairment Thick eyebrow Polyhydramnios Optic atrophy Ventriculomegaly Cardiomyopathy Cardiomegaly Atrial septal defect Long philtrum Hypospadias Constipation Mitral valve prolapse Webbed neck Short metacarpal Agenesis of corpus callosum Genu valgum Conductive hearing impairment Elbow flexion contracture Pulmonic stenosis Hypermetropia Microtia Pectus carinatum Osteopenia Proptosis Cerebral cortical atrophy Glaucoma Brachycephaly Pes cavus Restrictive ventilatory defect Congestive heart failure Bicuspid aortic valve Delayed skeletal maturation Decreased body weight Polydactyly Splenomegaly Aggressive behavior Thickened calvaria Motor delay Muscle weakness Myopia High, narrow palate Thick vermilion border Poor speech Hepatomegaly Left ventricular noncompaction Pectus excavatum Ankylosis Pes planus Clinodactyly Depressivity Neonatal hypotonia Wide mouth Rod-cone dystrophy Long eyelashes Encephalocele Abnormal form of the vertebral bodies Split hand Thickened skin Recurrent otitis media Progressive neurologic deterioration Abnormality of epiphysis morphology Chronic diarrhea Neurodegeneration Myocardial infarction Lumbar hyperlordosis Abnormality of the cardiovascular system Progressive visual loss Limitation of joint mobility Gingival overgrowth Asthma Inability to walk Broad nasal tip Macroglossia Delayed eruption of teeth Sleep disturbance Intellectual disability, profound Opacification of the corneal stroma Exotropia Thoracic scoliosis Toe walking Multiple joint contractures Flared metaphysis Coronary artery atherosclerosis Arthropathy Rhinitis Protruding tongue Stridor Short clavicles Hypoplasia of the odontoid process Palpebral edema Protuberant abdomen Peripheral visual field loss Shallow orbits Heart murmur Language impairment Abnormal vertebral morphology Progressive hearing impairment Coxa valga Spastic paraparesis Abnormality of dental enamel Coxa vara Aortic regurgitation Cerebral palsy Corneal dystrophy Hemiplegia Sleep apnea Hyperammonemia Increased intracranial pressure Recurrent upper respiratory tract infections Prominent supraorbital ridges Back pain Wide nose Carious teeth Hirsutism Abnormal social behavior Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Talipes valgus Abnormal parietal bone morphology Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Abnormality of the anus Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Lambdoidal craniosynostosis Hyperplastic labia majora Abnormality of the cerebral ventricles Abnormality of skin pigmentation Coarse facial features Dry skin Abnormality of eye movement Recurrent lower respiratory tract infections Severe global developmental delay Corneal opacity Stroke Arthralgia Abnormal pyramidal sign Retinopathy Pallor Mental deterioration Apnea Hepatosplenomegaly Umbilical hernia Skeletal dysplasia Abnormality of the renal pelvis Dyspnea Abdominal pain Recurrent respiratory infections Pneumonia Arrhythmia Visual loss Headache Diarrhea Vomiting Edema Respiratory insufficiency Skeletal muscle atrophy Agenesis of the anterior commissure Solitary renal cyst Abnormality of the elbow Beaking of vertebral bodies Obstructive sleep apnea Enlarged vertebral pedicles Postaxial 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 the tympanic membrane Abnormality of glycosaminoglycan metabolism 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 Deformed humerus Neoplasm Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Abnormality of the tonsils Calcification of falx cerebri Aganglionic megacolon Median cleft lip Abnormality of the pubic bone Intellectual disability, moderate Cerebral visual impairment Cerebellar vermis hypoplasia Vesicoureteral reflux Autistic behavior Postnatal growth retardation Microphthalmia Intrauterine growth retardation Dysarthria Metaphyseal chondrodysplasia Congenital blindness Small nail Underdeveloped nasal alae Short distal phalanx of finger Macrotia Postaxial foot polydactyly Blindness Dysplastic pulmonary valve Atrial septal dilatation Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Myeloproliferative disorder Scaphocephaly Pterygium Deep philtrum Leukemia Hypertrophic cardiomyopathy Short nose Ptosis Lobulated tongue Hypoplasia of the femoral head Abnormality of mucopolysaccharide metabolism Abnormality of the skull Foam cells Abnormal diaphysis morphology Diaphyseal thickening Delayed ossification of carpal bones Broad femoral neck Rhinorrhea Abnormality of peripheral nerve conduction Myelopathy Hypoplasia of teeth Abnormal aortic valve morphology Constrictive median neuropathy Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Flared iliac wings Retinal fold Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Upper airway obstruction Communicating hydrocephalus Large earlobe Abnormal corpus callosum morphology Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Abnormality of the clavicle Recurrent ear infections Chronic rhinitis Dermatan sulfate excretion in urine Hip subluxation Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Urinary glycosaminoglycan excretion Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Heparan sulfate excretion in urine Atlantoaxial dislocation Biconcave vertebral bodies Abnormality of the gingiva J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Impaired social interactions Delayed closure of the anterior fontanelle Periventricular leukomalacia Accelerated skeletal maturation Abnormally large globe Upper limb undergrowth Shortening of the talar neck Narrow nasal bridge Tertiary hyperparathyroidism Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Ataxia Spondyloepiphyseal dysplasia Radioulnar synostosis Hyperextensible skin Sandal gap Microretrognathia Flattening of the talar dome Joint dislocation Meningitis Lymphedema Amblyopia Abnormal lung morphology Tremor Blue sclerae Low posterior hairline Cerebellar hypoplasia Congenital diaphragmatic hernia Esotropia Recurrent fractures Muscular hypotonia of the trunk Overlapping fingers Generalized osteoporosis Arachnodactyly Bilateral elbow dislocations Hypophosphatemic rickets Renal phosphate wasting Dysphagia Gait disturbance Hypocalciuria Fibular bowing Hypomineralization of enamel Polyostotic fibrous dysplasia Pseudo-fractures Cataract Failure to thrive Nystagmus Microcephaly Metacarpophalangeal joint hyperextensibility Small face Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Trapezoidal distal femoral condyles Deep palmar crease Flat face Talipes Myopathy Limb undergrowth Preaxial polydactyly Chronic kidney disease Mild global developmental delay Plagiocephaly Sparse eyelashes Right ventricular hypertrophy Hyperbilirubinemia Short ribs Hepatic fibrosis Hydrops fetalis Slender build Cholestasis Narrow forehead Speech apraxia Mesomelia Ectodermal dysplasia Perseveration Increased head circumference Deviated nasal septum Stage 5 chronic kidney disease Smooth philtrum Renal insufficiency Sparse hair Syndactyly Telecanthus Proteinuria Retrognathia High forehead Sparse eyebrow Nephronophthisis Abnormality of the foot Talipes equinovarus Short philtrum Delayed puberty Hip dislocation Long face Abnormal cerebellum morphology Prominent nose Intention tremor Osteoporosis Open mouth Dental crowding Clonus Relative macrocephaly Respiratory distress Poor suck Cutaneous finger syndactyly Fever Nasal speech Hallux valgus Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Cholangitis Biliary cirrhosis High anterior hairline Polysplenia Tetany Elevated circulating parathyroid hormone level Cavum septum pellucidum Congenital sensorineural hearing impairment Neuroblastoma Slender long bone Telangiectasia of the skin Absent septum pellucidum Abnormality of the immune system Infantile spasms High hypermetropia Macule Polyphagia Hypermelanotic macule Dysphasia Delayed cranial suture closure Hemiplegia/hemiparesis Clitoral hypertrophy Congenital hypothyroidism Self-injurious behavior Hand polydactyly Failure to thrive in infancy Pyloric stenosis Abnormality of vision Delayed gross motor development Infantile muscular hypotonia Scrotal hypoplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Anteriorly placed anus Submucous cleft hard palate Spastic tetraparesis Abnormality of the testis Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Thickened helices Rib fusion Acidosis Abnormality of the spleen Redundant neck skin Volvulus Delayed CNS myelination Dilation of lateral ventricles Abnormality of the neck Foot polydactyly Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Arnold-Chiari type I malformation Overweight Epileptic spasms Abnormal lung lobation Abnormal intestine morphology Osteoarthritis Hyperphosphatemia Hyperparathyroidism Dilated cardiomyopathy Small for gestational age Neurological speech impairment Bowing of the legs Hypophosphatemia Abnormality of the liver Femoral bowing Feeding difficulties in infancy Abnormality of the eye Camptodactyly Abnormality of the kidney Tibial bowing Hydronephrosis Deeply set eye Metaphyseal irregularity EEG abnormality Mandibular prognathia Hypothyroidism Micropenis Hypogonadism Glycosuria Osteomalacia Spinal cord compression Clinodactyly of the 5th finger Renal tubular dysfunction Obesity Absent speech Abnormality of cardiovascular system morphology Cerebral atrophy Abnormality of the cerebral white matter Rickets Pointed chin Abnormality of pelvic girdle bone morphology Wide anterior fontanel Short phalanx of finger Stereotypy Telangiectasia Large fontanelles Bone pain Heterotopia Pachygyria Hypocalcemia Depressed nasal ridge Tetraparesis Nephrocalcinosis Hypsarrhythmia Coarctation of aorta Oral cleft Optic disc pallor Hypoplasia of penis Tetralogy of Fallot Abnormal blistering of the skin Epileptic encephalopathy Hypercalciuria Elevated alkaline phosphatase Intestinal malrotation Delayed myelination Brain atrophy Hypercalcemia Short foot Hepatic steatosis Polymicrogyria Broad eyebrow


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