Abnormal facial shape, and Hypotension

Diseases related with Abnormal facial shape and Hypotension

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


Top matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Low match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE


FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Low 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

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Other less relevant matches:

Low match BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1


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 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Low match RENAL TUBULAR DYSGENESIS; RTD


Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.

RENAL TUBULAR DYSGENESIS; RTD Is also known as primitive renal tubule syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL TUBULAR DYSGENESIS; RTD

Low match SANDHOFF DISEASE, INFANTILE FORM


Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1


Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Low 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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hypotension

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Hypotension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Global developmental delay Muscle weakness Renal insufficiency Respiratory insufficiency Hearing impairment Generalized hypotonia Premature birth Ataxia Myopathy Macroglossia Fever Macrocephaly Vomiting Arrhythmia Hypokalemia Polyhydramnios Paresthesia Orthostatic hypotension Muscle cramps Sleep disturbance Hyperhidrosis Strabismus Hypertension Kyphosis Hyperreflexia Depressivity Dysarthria

Rare Symptoms - Less than 30% cases


Hyperaldosteronism Diabetes mellitus Dementia Hypomagnesemia Renal salt wasting Anxiety Chondrocalcinosis Tetany Alkalosis Nephrolithiasis Hyperkalemia Increased circulating renin level Polyuria Hyperlordosis Hypercalciuria High palate Ventricular arrhythmia Nephrocalcinosis Ptosis Dehydration Metabolic alkalosis Hypokalemic alkalosis Hypokalemic metabolic alkalosis Megalencephaly Hypothermia Respiratory failure Hypertelorism Hypothyroidism Weight loss Coarse facial features Feeding difficulties Muscular hypotonia Psychosis Emotional lability Cataract Skeletal muscle atrophy Renal juxtaglomerular cell hypertrophy/hyperplasia Increased serum prostaglandin E2 Hyperprostaglandinuria Nystagmus Hyperchloriduria Hyperactive renin-angiotensin system Fetal polyuria Increased urinary potassium Renal potassium wasting Hypochloremia Hyposthenuria Low-to-normal blood pressure Scoliosis Triangular face Myoglobinuria Hypohidrosis Generalized muscle weakness Progressive cerebellar ataxia Dry skin Neurological speech impairment Abnormal pyramidal sign Babinski sign Hyporeflexia Supranuclear gaze palsy Hepatomegaly Cardiomyopathy Myalgia Cardiomegaly Fasciculations Acidosis Prominent forehead Gait disturbance Small for gestational age Spasticity Diarrhea Frontal bossing Hyperphosphatemia Low hanging columella Thoracic kyphosis Malignant hyperthermia Malar flattening Large face Severe lactic acidosis Scaphocephaly Pseudobulbar signs Acute kidney injury Rhabdomyolysis Abnormality of the sternum Breech presentation Diaphragmatic eventration Respiratory arrest Optic atrophy Drowsiness Increased CSF protein Poor coordination Cryptorchidism Hypogonadism Intellectual disability, severe Bulbar signs Hypersomnia Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Aqueductal stenosis Congenital ptosis Progressive macrocephaly Myopathic facies Ventricular fibrillation Abnormality of the coagulation cascade Hypertonia Arthrogryposis multiplex congenita Muscular dystrophy Downslanted palpebral fissures Pectus carinatum Stroke Microcoria Proximal muscle weakness Limb muscle weakness Rigidity Kyphoscoliosis Pes cavus Elevated serum creatine phosphokinase Pectus excavatum Midface retrusion Epicanthus Lactic acidosis Dilatation Lymphedema Recurrent singultus Myotonia Hyperpigmented nevi Deep philtrum Tachypnea Shock Umbilical hernia Tachycardia Decreased fetal movement Webbed neck Abnormal bleeding Metabolic acidosis Low-set ears Flexion contracture Joint hypermobility Lumbar hyperlordosis Abdominal distention Jaundice Oral-pharyngeal dysphagia Sleep apnea Dysphonia Encephalitis Precocious puberty Self-injurious behavior EEG abnormality Dysphasia Abnormal autonomic nervous system physiology Agenesis of corpus callosum Hydrocephalus Primary hypercortisolism Dysphagia Tremor Motor delay Cognitive impairment Leukoencephalopathy Muscle stiffness Abnormality of reproductive system physiology Abnormality of the cerebral white matter Dysmetria Abnormality of eye movement Tetraplegia Nausea and vomiting Sudden cardiac death Gliosis Chorea Amenorrhea Leukodystrophy Peripheral demyelination Cerebral calcification Cough Diplopia Developmental regression Facial palsy Clonus Growth delay Large posterior fontanelle Abnormality of the eye Abnormality of the hair Intestinal obstruction Growth abnormality Abnormality of vision Goiter Anosmia Oligodontia Reduced tendon reflexes Sinusitis Abnormality of the thyroid gland Abnormality of epiphysis morphology Large fontanelles Abnormality of the face Depressed nasal ridge Oral cleft Feeding difficulties in infancy Atrophy/Degeneration affecting the brainstem Tracheoesophageal fistula Prolonged neonatal jaundice Bowel incontinence Hoarse cry Thyroid dysgenesis Compensated hypothyroidism Progressive spasticity Angiokeratoma corporis diffusum Thyroid agenesis Abnormal pericardium morphology Ectopic thyroid Increased thyroid-stimulating hormone level Congenital hypothyroidism Thyroid hypoplasia Primary hypothyroidism Pseudohypoparathyroidism Anterior hypopituitarism Muscle fibrillation Abnormal eyelid morphology Palpebral edema Short neck Edema Macronodular adrenal hyperplasia Hypercalcemia Microcephaly Nephrogenic diabetes insipidus Parathyroid hyperplasia Parathyroid adenoma Hyperparathyroidism Diabetes insipidus Stage 5 chronic kidney disease Clinodactyly Protruding ear Gastroesophageal reflux Sensorineural hearing impairment Pseudohypoaldosteronism Hypocalciuria Impaired platelet aggregation Abnormally large globe Ventricular septal defect Abnormality of the pinna Polydipsia Bilateral single transverse palmar creases Absent nipple Renal tubular dysfunction Multiple renal cysts Adrenal insufficiency Preauricular pit Glomerulonephritis Abnormality of the urinary system Preauricular skin tag Joint hyperflexibility Choanal atresia Small nail Oligohydramnios Tetralogy of Fallot Nephropathy Pulmonary hypoplasia Anal atresia Hyperthyroidism Macrotia Interrupted aortic arch Peripheral axonal neuropathy Dysdiadochokinesis Urticaria Macular degeneration Limb ataxia Intention tremor Abnormality of the skin Abnormality of movement Abnormality of the musculature Facial asymmetry Ophthalmoplegia Papule Erythema Gait ataxia Hyperkeratosis Cerebellar atrophy Macule Impaired smooth pursuit Pain Exercise intolerance Shortened PR interval Biventricular hypertrophy Pulmonary edema Sinus bradycardia Enlarged kidney Neonatal hypoglycemia Heart murmur Bradycardia Supranuclear ophthalmoplegia Cyanosis Ascites Hypertrophic cardiomyopathy Hypoglycemia Congestive heart failure Respiratory distress Micrognathia Periventricular leukomalacia Proximal tubulopathy Dorsocervical fat pad Thin skin Premature ovarian insufficiency Lipodystrophy Recurrent skin infections Venous thrombosis Generalized hirsutism Increased body weight Memory impairment Agitation Round face Recurrent fractures Hirsutism Bruising susceptibility Infertility Lethargy Mental deterioration Acne Menorrhagia Osteoporosis Pituitary adenoma Moon facies Metrorrhagia Onychomycosis Mood changes Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Adrenal hyperplasia Truncal obesity Increased circulating cortisol level Bipolar affective disorder Subarachnoid hemorrhage Aseptic necrosis Generalized hyperpigmentation Striae distensae Telangiectasia of the skin Abdominal pain Visual loss Decreased circulating renin level Vascular ring Hepatosplenomegaly Cerebral cortical atrophy Recurrent respiratory infections Blindness Peripheral neuropathy Renotubular dysgenesis Renal magnesium wasting Infra-orbital crease Paralysis Potter facies Aplasia of the thymus Anuria Absent gallbladder Widely patent fontanelles and sutures Accessory spleen Right aortic arch Respiratory tract infection Neurodegeneration Obesity Cherry red spot of the macula Headache Immunodeficiency Fatigue Visual impairment Neoplasm Impaired thermal sensitivity Abnormality of glycosphingolipid metabolism Progressive psychomotor deterioration Urinary incontinence Upper motor neuron dysfunction Motor deterioration Episodic abdominal pain Impotence Hemiplegia Chronic diarrhea Progressive neurologic deterioration Diffuse demyelination of the cerebral white matter



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