Frontal bossing, and Hypotension

Diseases related with Frontal bossing and Hypotension

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

Top matches:

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

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

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Other less relevant matches:

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

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

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

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:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

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

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Sparse hair Generalized hypotonia Abnormality of the dentition Depressed nasal ridge Growth delay Prominent forehead Thick vermilion border Short distal phalanx of finger Abnormality of the skeletal system Hypotrichosis Seizures Hyperhidrosis Hoarse voice Agenesis of permanent teeth Short nose Ectodermal dysplasia Strabismus Osteopenia Constipation Hearing impairment Macrocephaly

Rare Symptoms - Less than 30% cases

Absent eyebrow Epicanthus Thin skin Depressivity Brachydactyly Wide nasal bridge Facial palsy Downslanted palpebral fissures Agenesis of corpus callosum EEG abnormality Hypothyroidism Sparse eyelashes Pectus excavatum Sparse and thin eyebrow Type I diabetes mellitus Micrognathia Anhidrosis Anodontia Neoplasm Periorbital wrinkles Polydactyly Pneumonia Delayed skeletal maturation Intellectual disability, severe Anteverted nares Sensorineural hearing impairment Hypogonadotrophic hypogonadism Limb undergrowth Absent eyelashes Narrow chest Low-set ears Periorbital hyperpigmentation Everted upper lip vermilion Aplasia/Hypoplasia of the eyebrow Hypohidrotic ectodermal dysplasia Dysphonia Anhidrotic ectodermal dysplasia Absent nipple Anterior hypopituitarism Muscle stiffness Heat intolerance Respiratory insufficiency Soft skin Cerebral calcification Hypoplastic nipples Amenorrhea Sparse body hair Hydrocephalus Hypohidrosis Short neck Hypocalciuria Microdontia Vomiting Hypercalciuria Small for gestational age Fever Pain Short ribs Failure to thrive Scoliosis Nephrocalcinosis Ataxia Nystagmus Muscle weakness Muscular hypotonia Spasticity Everted lower lip vermilion Feeding difficulties Motor delay Delayed eruption of teeth Tetany Dysarthria Hypodontia Polyhydramnios Tachypnea Supernumerary ribs Wormian bones Wide anterior fontanel Large fontanelles Pulmonary arterial hypertension Cardiomegaly Round face Ectopic calcification Neoplasm of the endocrine system Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Short long bone Broad face Micromelia Abnormality of the neck Deep philtrum Hypokinesia Bell-shaped thorax Delayed epiphyseal ossification Spondylometaphyseal dysplasia Metaphyseal cupping Wide nose Fibroma Cervical ribs Histiocytoma Squared iliac bones Oligodontia Hyperkeratosis Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Palmoplantar hyperkeratosis Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Calcification of falx cerebri Platyspondyly Abnormality of the sense of smell Microtia Postnatal growth retardation Muscular hypotonia of the trunk Dilatation Congestive heart failure Hamartomatous polyposis Vertebral wedging Orbital cyst Parietal bossing Ovarian carcinoma Multiple impacted teeth Severe hydrocephalus Short distal phalanx of the thumb Palmar pits Hypoplastic ischia Prematurely aged appearance Severe platyspondyly Underdeveloped nasal alae Abnormal oral mucosa morphology Concave nail Conical tooth Taurodontia Rhinitis Brittle hair Prominent supraorbital ridges Short chin Sparse scalp hair Eczema Hypoplasia of the maxilla Hypoplastic-absent sebaceous glands Dry skin Respiratory tract infection Recurrent respiratory infections Immunodeficiency Respiratory distress Tertiary hyperparathyroidism Shortening of the talar neck Flattening of the talar dome Trapezoidal distal femoral condyles Pseudo-fractures Polyostotic fibrous dysplasia Aplasia/Hypoplastia of the eccrine sweat glands Renal insufficiency Fibular bowing Bone marrow hypocellularity Pes valgus Broad distal phalanx of finger Sagittal craniosynostosis Elevated serum creatinine Cutaneous finger syndactyly Nephronophthisis Chronic kidney disease Cone/cone-rod dystrophy Cutis laxa Recurrent pneumonia Hepatic fibrosis Rod-cone dystrophy Hip dysplasia Asthma Full cheeks Nephropathy Thin vermilion border Joint hypermobility Stage 5 chronic kidney disease Smooth philtrum Hypermetropia Craniosynostosis Protruding ear Hypomineralization of enamel Renal phosphate wasting Dysplastic sacrum Aplasia/Hypoplasia of the skin Dimple chin Abnormality of the upper urinary tract Lacrimation abnormality Periorbital fullness Abnormal hair pattern Sparse lateral eyebrow Abnormal eyelash morphology Aplasia cutis congenita Skin tags Multiple cafe-au-lait spots Redundant skin Abnormality of the sacroiliac joint Hypopigmented skin patches Horizontal nystagmus Broad nasal tip Highly arched eyebrow Downturned corners of mouth Bulbous nose Anal atresia Short philtrum Scarring Upslanted palpebral fissure Iliac crest serration Distichiasis Sparse lower eyelashes Hypophosphatemic rickets Hypophosphatemia Elevated circulating parathyroid hormone level Hyperphosphatemia Renal tubular dysfunction Spinal cord compression Ankylosis Spinal canal stenosis Osteomalacia Glycosuria Hyperparathyroidism Tibial bowing Femoral bowing Bowing of the legs Congenital horizontal nystagmus Metaphyseal irregularity Rickets Hypercalcemia Elevated alkaline phosphatase Abnormality of pelvic girdle bone morphology Hypocalcemia Bone pain Left ventricular hypertrophy Osteoarthritis Ventricular hypertrophy Arthralgia Short 4th metacarpal Carious teeth Down-sloping shoulders Tetraplegia Leukoencephalopathy Abnormal autonomic nervous system physiology Leukodystrophy Clonus Diplopia Peripheral demyelination Chorea Gliosis Sudden cardiac death Sleep disturbance Encephalitis Dysmetria Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Neurological speech impairment Cough Abnormal pyramidal sign Hyperlordosis Developmental regression Weight loss Sleep apnea Precocious puberty Diabetes mellitus Hypothermia Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Megalencephaly Self-injurious behavior Poor coordination Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Respiratory failure Dementia Fatigue Hypokalemia Alkalosis Abnormally large globe Renal salt wasting Hypomagnesemia Hyperaldosteronism Hyperthyroidism Hyperkalemia Polyuria Polydipsia Ventricular arrhythmia Metabolic alkalosis Dehydration Premature birth Triangular face Generalized muscle weakness Muscle cramps Paresthesia Macrotia Acidosis Arrhythmia Diarrhea Chondrocalcinosis Impaired platelet aggregation Hyporeflexia Increased serum prostaglandin E2 Kyphosis Dysphagia Gait disturbance Tremor Hyperreflexia High palate Cognitive impairment Ptosis Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Hyperprostaglandinuria Increased circulating renin level Hyperchloriduria Hyperactive renin-angiotensin system Fetal polyuria Increased urinary potassium Renal potassium wasting Hypochloremia Hyposthenuria Hypokalemic alkalosis Hypokalemic metabolic alkalosis Pseudohypoaldosteronism Diffuse demyelination of the cerebral white matter Edema Fragile nails Proteinuria Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Papule Coloboma Cleft lip Telecanthus Carcinoma Nevus Coarse facial features Retrognathia Kyphoscoliosis Mandibular prognathia Proptosis Glaucoma Abdominal pain Brachycephaly Visual loss Microphthalmia Palmoplantar keratoderma Abnormality of the ribs Cryptorchidism Inflammation of the large intestine Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Long fingers Basal cell carcinoma Milia Disproportionate tall stature Melanocytic nevus Hemiparesis Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hemivertebrae Spina bifida Bradycardia Hyperpigmentation of the skin Exotropia Syndactyly Cataract Malar flattening Ascites Hypoplastic left heart Delayed cranial suture closure Adrenal insufficiency Optic nerve hypoplasia Holoprosencephaly Aspiration Decreased testicular size Growth hormone deficiency Macroglossia Infertility Prolonged neonatal jaundice Delayed puberty Pulmonic stenosis Severe global developmental delay Abnormality of the eye Deeply set eye Hypoglycemia Jaundice Hypogonadism Patent ductus arteriosus Midface retrusion Abnormality of digit Absent septum pellucidum Cleft palate Aplasia/Hypoplasia of the breasts Hypertelorism Microcephaly Ectopic anterior pituitary gland Anterior pituitary agenesis Osteoporosis of vertebrae Abnormality of secondary sexual hair Decreased cervical spine mobility Moon facies Abnormal prolactin level Pituitary dwarfism Septo-optic dysplasia Hypopituitarism Ectopic posterior pituitary Decreased circulating ACTH level Median cleft lip and palate Anterior pituitary hypoplasia Absence of secondary sex characteristics Pituitary hypothyroidism Concave nasal ridge Short attention span Aspiration pneumonia Severe postnatal growth retardation Broad phalanx of the toes


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