Frontal bossing, and Vomiting

Diseases related with Frontal bossing and Vomiting

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


Top matches:

High match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

High match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

High match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

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Other less relevant matches:

High match BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

High match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


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

High match D-2-HYDROXYGLUTARIC ACIDURIA


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

High match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

High match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

High match CYSTINOSIS, NEPHROPATHIC; CTNS


Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

High match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Macrocephaly Constipation Prominent forehead Failure to thrive Visual impairment Encephalopathy Muscular hypotonia Irritability Ataxia Fever Strabismus Gait disturbance Spasticity Cryptorchidism Hepatomegaly Low-set ears Muscle weakness Micrognathia Microcephaly Depressivity Abnormal facial shape Absence seizures Malar flattening Osteopenia Diabetes mellitus Hypogonadism Brachycephaly Generalized hypotonia Oral-pharyngeal dysphagia Pain

Rare Symptoms - Less than 30% cases


Motor delay Abnormality of skin pigmentation Hypopigmentation of the skin Delayed speech and language development Dysarthria Tremor High palate Ptosis Hyperlordosis Osteoporosis Progressive spasticity Behavioral abnormality Coarse facial features Hyperactivity Protruding ear Cerebral atrophy Focal-onset seizure Epileptic encephalopathy Muscle stiffness Polyuria Polydipsia Blindness Increased CSF protein Dehydration Premature birth Generalized muscle weakness Cerebral calcification Respiratory distress Macrotia Polyhydramnios Hypertelorism Hypothyroidism Respiratory insufficiency Focal impaired awareness seizure Respiratory failure Short nose Nausea Hydrocephalus Postnatal growth retardation Optic atrophy Scoliosis Myopathy Confusion Atrophy/Degeneration affecting the brainstem Episodic vomiting Cognitive impairment Sleep disturbance Self-injurious behavior Coma Downturned corners of mouth Lethargy Pigmentary retinopathy Small for gestational age Acidosis Splenomegaly Retinopathy Skeletal dysplasia Mandibular prognathia Gait ataxia Diarrhea Gastroesophageal reflux Autism EEG abnormality Photophobia Hyperhidrosis Cataract Autistic behavior Short neck Dysphagia Short chin Hyperreflexia Triangular face Facial palsy Weight loss Large face Pseudobulbar signs Bowel incontinence Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Drowsiness Emotional lability Muscle fibrillation Poor coordination Dysphasia Megalencephaly Cough Precocious puberty Hemifacial hypoplasia Dementia Agenesis of corpus callosum Hyporeflexia Kyphosis Hypertension Nystagmus Abnormality of lower lip Paroxysmal bursts of laughter Macrodontia Abnormal pyramidal sign Short attention span Polyphagia Cupped ear Language impairment Tented upper lip vermilion Infantile muscular hypotonia Widely spaced teeth Sandal gap Developmental regression Recurrent singultus Encephalitis Amenorrhea Dysphonia Sleep apnea Leukoencephalopathy Abnormal autonomic nervous system physiology Leukodystrophy Clonus Diplopia Peripheral demyelination Hypotension Neurological speech impairment Chorea Gliosis Sudden cardiac death Tetraplegia Dysmetria Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Progressive macrocephaly Glycosuria Hyperpigmented nevi Lumbar hyperlordosis Drooling Abnormality of the outer ear Joint dislocation Recurrent pneumonia Meningitis Aspiration Sinusitis Rhizomelia Recurrent urinary tract infections Encephalocele Limb undergrowth Hyperkinesis Otitis media Short metacarpal Generalized myoclonic seizures Abdominal distention Inability to walk Talipes Poor speech Narrow chest Generalized tonic-clonic seizures Respiratory tract infection Disproportionate short-limb short stature Short metatarsal Deeply set eye Lethal skeletal dysplasia Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Fused cervical vertebrae Elbow dislocation 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Short humerus Atonic seizures Tibial bowing Spondyloepiphyseal dysplasia Flat occiput Clubbing Anxiety Proptosis Microcoria Chronic kidney disease Flushing Microscopic hematuria Exocrine pancreatic insufficiency Hypopigmentation of hair Male infertility Generalized hirsutism Hyponatremia Rickets Metaphyseal widening Failure to thrive in infancy Hypohidrosis Heat intolerance Nephrolithiasis Progressive neurologic deterioration Memory impairment Stage 5 chronic kidney disease Genu valgum Delayed puberty Proteinuria Delayed skeletal maturation Renal insufficiency Skeletal muscle atrophy Diffuse demyelination of the cerebral white matter Preeclampsia Male hypogonadism Abdominal pain Flexion contracture Severe short stature Recurrent respiratory infections Pneumonia Hypospadias Midface retrusion Recurrent infections Talipes equinovarus Abnormality of the skeletal system Brachydactyly Depressed nasal bridge Cleft palate Decreased plasma carnitine Elevated intracellular cystine Oral motor hypotonia Episodic metabolic acidosis Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Recurrent corneal erosions Finger clinodactyly Inspiratory stridor Low anterior hairline Arrhythmia Hyperthyroidism Hyperkalemia Hypercalciuria Hypokalemia Ventricular arrhythmia Nephrocalcinosis Muscle cramps Paresthesia Acrokeratosis Hypomagnesemia Lamellar cataract Acantholysis Concave nasal ridge Poikiloderma Osteosarcoma Alopecia of scalp Severe vision loss Striae distensae Hyperaldosteronism Renal salt wasting Squamous cell carcinoma Hyposthenuria Increased serum prostaglandin E2 Hyperprostaglandinuria Hyperchloriduria Hyperactive renin-angiotensin system Fetal polyuria Increased urinary potassium Renal potassium wasting Hypochloremia Hypokalemic alkalosis Abnormally large globe Hypokalemic metabolic alkalosis Pseudohypoaldosteronism Hypocalciuria Increased circulating renin level Impaired platelet aggregation Metabolic alkalosis Tetany Chondrocalcinosis Alkalosis Basal cell carcinoma Erythroderma Low-to-normal blood pressure Adrenal hypoplasia Hepatosplenomegaly Thrombocytopenia Hypoplasia of the corpus callosum Anemia Hyperglycerolemia Increased urinary glycerol Adrenocortical hypoplasia Congenital adrenal hypoplasia Ketoacidosis Leukopenia Pathologic fracture Loss of consciousness Adrenal insufficiency Hyperlipidemia Hypertriglyceridemia Metabolic acidosis Muscular dystrophy Hypoglycemia Brain atrophy Short femoral neck Melanoma Sparse hair Telangiectasia Sparse scalp hair Cutaneous photosensitivity Eczema Overgrowth Abnormal blistering of the skin Leukemia Skin rash Erythema Osteopetrosis Carcinoma Hyperkeratosis Alopecia Abnormality of the dentition Edema Neoplasm Increased density of long bones Uncontrolled eye movements Increased head circumference Renal juxtaglomerular cell hypertrophy/hyperplasia Epicanthus Stereotypy Subependymal cysts Thin upper lip vermilion Retrognathia Clinodactyly of the 5th finger Clinodactyly Intellectual disability, severe Myopia Multifocal cerebral white matter abnormalities D-2-hydroxyglutaric aciduria Cardiogenic shock Feeding difficulties in infancy Glutaric aciduria Infantile encephalopathy Anteverted ears Narrow naris Generalized tonic seizures Periventricular leukomalacia Delayed CNS myelination Dilation of lateral ventricles Aggressive behavior Wide mouth Stridor Highly arched eyebrow Dental crowding Open mouth Hypoplasia of penis Hip dysplasia Febrile seizures Esotropia Prominent nose Short foot Everted lower lip vermilion Microtia Small hand Short palm Thick eyebrow Bulbous nose Astigmatism Facial asymmetry Synophrys Hypermetropia Broad forehead Turricephaly Shock Peripheral neuropathy Sensory impairment Hypergonadotropic hypogonadism Sensorimotor neuropathy Cholestasis Hemiparesis Intention tremor Status epilepticus Type II diabetes mellitus Migraine Polyneuropathy Paraparesis Sensory neuropathy Distal sensory impairment Cirrhosis Peripheral axonal neuropathy Unsteady gait Abnormality of the liver Mental deterioration Rod-cone dystrophy Headache Bilateral single transverse palmar creases Spastic paraparesis Aortic regurgitation Apnea Severe muscular hypotonia Cerebral visual impairment Involuntary movements Hypsarrhythmia Aciduria Broad nasal tip Flat face Dolichocephaly Cerebral cortical atrophy Apathy Myoclonus Cardiomyopathy Anteverted nares Ventriculomegaly Wide nasal bridge Biliary tract abnormality Fat malabsorption Iris hypopigmentation Agitation Distal tapering femur



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