Frontal bossing, and Irritability

Diseases related with Frontal bossing and Irritability

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

Top matches:

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS Is also known as vddi|vitamin d-dependency type i|vddr-i|vitamin d-dependent rickets, type 1a|vitamin d dependency, type 1|pddr1a|1-alpha, 25-hydroxyvitamin d3 deficiency, selective|25-hydroxycholecalciferol-1-hydroxylase deficiency|pddr ia|1-alpha-hydroxylase deficiency|

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS

Other less relevant matches:

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

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

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Epicanthus Strabismus Feeding difficulties Nystagmus Abnormal facial shape Hepatomegaly Ventriculomegaly Intellectual disability Micrognathia Respiratory insufficiency Motor delay Hypertelorism Visual impairment Macrocephaly Hypoplasia of dental enamel Cryptorchidism Renal insufficiency Rickets Scoliosis Short stature Delayed eruption of teeth Recurrent fractures Aminoaciduria Flat occiput Hypophosphatemia Hyperparathyroidism Osteomalacia Blindness Cataract Depressed nasal bridge Hearing impairment Full cheeks Hypogonadism Vomiting Hypoplasia of the corpus callosum Long philtrum Cerebral atrophy Microcephaly Thrombocytopenia Hydrocephalus Optic atrophy Anemia Encephalopathy

Rare Symptoms - Less than 30% cases

Postnatal growth retardation Anteverted nares Respiratory distress Abnormality of nervous system morphology Tetraplegia Neonatal hypotonia EEG abnormality Osteopenia Cardiomyopathy Respiratory failure Brachycephaly Myoclonus Azoospermia Cafe-au-lait spot Carcinoma Dysphagia Myopia Wide nasal bridge Hyperreflexia Low-set ears Abnormality of the skin Carious teeth Astigmatism Sensorineural hearing impairment Hypergonadotropic hypogonadism Pigmentary retinopathy Retinopathy Hypertrophic cardiomyopathy Proptosis Cerebral cortical atrophy Abnormality of the liver Abnormality of dental enamel Narrow palate Hematuria Joint hypermobility Joint hyperflexibility Delayed puberty Hip dislocation Feeding difficulties in infancy Low-set, posteriorly rotated ears Intellectual disability, moderate Umbilical hernia Gastroesophageal reflux Upslanted palpebral fissure Inguinal hernia Abnormality of the dentition Mandibular prognathia Dolichocephaly Coarse facial features Severe short stature Apnea Abnormal heart morphology Protruding ear Abnormality of cardiovascular system morphology Aciduria Cognitive impairment Atrial septal defect Abnormality of the skeletal system High palate Ptosis Neoplasm Abnormality of the testis Microphthalmia Behavioral abnormality Generalized aminoaciduria Enlargement of the wrists Spasticity Ataxia Difficulty walking Malabsorption Thick vermilion border Subperiosteal bone resorption Bulging of the costochondral junction Deformed rib cage Secondary hyperparathyroidism Sparse bone trabeculae Metaphyseal irregularity Bulging epiphyses Abdominal wall muscle weakness Fibular bowing Leukopenia Widely patent fontanelles and sutures Hypocalcemic seizures Difficulty standing Long face Short nose Bone pain Thin bony cortex Elevated circulating parathyroid hormone level Delayed epiphyseal ossification Protuberant abdomen Hypocalcemia Tibial bowing Femoral bowing Elevated alkaline phosphatase Peripheral demyelination Enlargement of the ankles Dysarthria Headache Spastic tetraplegia Gait disturbance Depressivity Prominent forehead Bowing of the legs Short chin Brain atrophy Talipes equinovarus Hyperkeratosis Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Hyperhidrosis Duodenal stenosis Primary hypothyroidism Abnormal aortic morphology Chromosomal breakage induced by crosslinking agents Polyhydramnios Kyphoscoliosis Reticulocytopenia Hypoglycemia Downslanted palpebral fissures Abnormality of chromosome stability Abnormal localization of kidney Loose anagen hair Cardiomyocyte hypertrophy Abnormality of the nervous system Bladder carcinoma Decreased fertility in males Hypoplastic anemia Osteoporosis Aplasia/Hypoplasia of fingers Edema Myopathy Intellectual disability, mild Absent speech Macrocephaly at birth Hernia Pectus excavatum Delayed speech and language development Arrhythmia Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of the uvula Short neck Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Delayed skeletal maturation Pes cavus Ventricular septal defect Anemic pallor Posteriorly rotated ears Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Hypertension Compensated hypothyroidism Absent testis Almond-shaped palpebral fissure Triangular mouth Abnormal renal morphology Cranial nerve paralysis Tendon rupture Alveolar rhabdomyosarcoma Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Lymphangiectasis Hypopigmented skin patches Renal hypoplasia/aplasia Congenital neuroblastoma Thickened Achilles tendon Type I diabetes mellitus Glucose intolerance Horseshoe kidney Bone marrow hypocellularity Spina bifida Abnormal vertebral morphology Insulin resistance Short thumb Systolic heart murmur Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Pancytopenia Tracheoesophageal fistula Hypoplasia of the ulna Abnormal aortic valve morphology Chromosome breakage Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Wide mouth Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality Vitreomacular adhesion External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Enlarged cerebellum Squamous cell carcinoma Myofiber disarray Joint laxity Ascites Choroid plexus papilloma Arnold-Chiari type I malformation Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Ulnar deviation of the wrist Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Syringomyelia Achilles tendon contracture Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Large for gestational age Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Thick upper lip vermilion Large forehead Body odor Rhabdomyosarcoma Capillary malformation Bladder neoplasm Hematemesis Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Hyperextensibility of the finger joints Duodenal ulcer Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Lack of skin elasticity Central apnea Verrucae Abnormal pulmonary valve morphology Bilateral cryptorchidism Hyperglycemia Sparse hair Macroglossia Postprandial hyperglycemia Shyness Hypopnea Hip dysplasia Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Growth hormone deficiency Webbed neck Ganglioneuroblastoma Premature birth Nevus Frontal hirsutism Sepsis Melena Eczema Vestibular Schwannoma Deep-set nails Postural instability Sleep disturbance High, narrow palate Wide nose Tachycardia Pulmonic stenosis Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Overgrowth Mitral valve prolapse Sloping forehead Abnormal dermatoglyphics Heart murmur Pleural effusion Aortic aneurysm Failure to thrive in infancy Redundant skin Pyloric stenosis Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Cutis laxa Apraxia Acanthosis nigricans Abnormality of the fingernails Pointed chin Hoarse voice Abnormality of the hair Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Atrial fibrillation Thick lower lip vermilion Epidermal acanthosis Oligohydramnios Atypical scarring of skin Tetralogy of Fallot Hypodontia Diffuse hepatic steatosis No social interaction Tapetoretinal degeneration CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Abnormality of visual evoked potentials Inverted nipples Hand polydactyly Abnormal electroretinogram Intellectual disability, progressive Leukodystrophy Bilateral sensorineural hearing impairment Generalized-onset seizure Retinal degeneration Malar flattening Abnormality of the cerebral white matter Severe global developmental delay Neurological speech impairment Developmental regression Elevated hepatic transaminase Polydactyly Babinski sign Abnormality of metabolism/homeostasis Dystonia Hypertonia Intellectual disability, severe Increased serum 1,25-dihydroxyvitamin D3 Alopecia universalis Muscle weakness Hyperactivity Premature loss of teeth Turricephaly Subependymal cysts Cardiogenic shock Glutaric aciduria Infantile encephalopathy Anteverted ears Narrow naris Inspiratory stridor Generalized tonic seizures Episodic vomiting Periventricular leukomalacia Delayed CNS myelination Dilation of lateral ventricles Increased CSF protein Stridor Skeletal dysplasia Focal impaired awareness seizure Shock Aortic regurgitation Severe muscular hypotonia Absence seizures Cerebral visual impairment Involuntary movements Hypsarrhythmia Epileptic encephalopathy Focal-onset seizure Broad nasal tip Flat face Lethargy Alopecia totalis Papule Multifocal cerebral white matter abnormalities Axonal loss Enlargement of the costochondral junction Hypophosphatemic rickets Inability to walk Xanthine nephrolithiasis Increased urinary hypoxanthine Xanthinuria Molybdenum cofactor deficiency Increased urinary taurine Hypouricemia Myoclonic spasms Lens luxation Diffuse cerebral atrophy Cardiorespiratory arrest Opisthotonus Tremor Ectopia lentis Spastic tetraparesis Tetraparesis Gliosis Increased density of long bones Uncontrolled eye movements Increased head circumference Osteopetrosis Short femoral neck Triangular face Facial palsy Hepatosplenomegaly Splenomegaly Peripheral neuropathy Rod-cone dystrophy Alopecia Status epilepticus Biliary tract abnormality Fat malabsorption Iris hypopigmentation Atrophy/Degeneration affecting the brainstem Agitation Apathy Spastic paraparesis Paraparesis Bilateral single transverse palmar creases Sensorimotor neuropathy Cholestasis Hemiparesis Intention tremor Type II diabetes mellitus Gait ataxia Migraine Sensory impairment Coma Polyneuropathy Sensory neuropathy Distal sensory impairment Cirrhosis Nausea Peripheral axonal neuropathy Unsteady gait Confusion Mental deterioration Photophobia D-2-hydroxyglutaric aciduria Kyphosis Renal agenesis Proximal renal tubular acidosis Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Urogenital fistula Wrist swelling Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Renal tubular dysfunction Taurodontia Periodontitis Lentiglobus Hypoammonemia Gingivitis Abnormal cardiac septum morphology Lymphoma Hypopigmentation of the skin Neutropenia Bruising susceptibility Abnormality of skin pigmentation Vertigo Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Finger syndactyly Small for gestational age Leukemia Abnormality of the kidney Dense posterior cortical cataract Abnormality of the eye Pes planus Hypothyroidism Weight loss Diabetes mellitus Clinodactyly of the 5th finger Patent ductus arteriosus Hypospadias Congestive heart failure Fatigue Intrauterine growth retardation Fever Cleft palate Hyperaldosteronism Patellar dislocation Areflexia Attention deficit hyperactivity disorder Osteoarthritis Sparse scalp hair Fine hair Abnormality of the ribs Dehydration Increased serum lactate Abnormal bleeding Metabolic acidosis Everted lower lip vermilion Genu valgum Congenital cataract Platyspondyly Corneal opacity Camptodactyly of finger Abnormality of the metaphysis Joint stiffness Aggressive behavior Proteinuria Anxiety Arthritis Deeply set eye Thin upper lip vermilion Acidosis Reduced visual acuity Glaucoma Recurrent respiratory infections Constipation Hyporeflexia Open mouth Subcutaneous nodule Multiple renal cysts Glomerulonephritis Joint swelling Renal tubular acidosis Glomerulopathy Abnormal joint morphology Pathologic fracture Congenital glaucoma Dysphasia Open bite Diabetes insipidus Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Abnormality of the voice Dental crowding Hypokalemia Hypercalciuria Deep philtrum Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Nephrocalcinosis Joint contracture of the hand Skin ulcer Clonus Abnormality of epiphysis morphology Stereotypy Amblyopia Nephrolithiasis Increased corneal curvature


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