Abnormal facial shape, and Dehydration

Diseases related with Abnormal facial shape and Dehydration

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


Top matches:

Low match AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA


Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Low match BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A


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 (or neonatal) 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 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Low match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

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Other less relevant matches:

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

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 COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Prominent forehead Global developmental delay Generalized hypotonia Polyuria Triangular face Hepatomegaly Hearing impairment Hypercalciuria Nephrocalcinosis Muscular hypotonia Fever Hypochloremia Alkalosis Metabolic alkalosis Hypokalemic alkalosis Hypokalemic metabolic alkalosis Increased urinary potassium Muscle cramps Hyperchloriduria Fetal polyuria Tetany Constipation Respiratory insufficiency Anemia Hepatosplenomegaly Abnormality of the liver Hyperaldosteronism Renal salt wasting Micrognathia Hypokalemia Stage 5 chronic kidney disease Sensorineural hearing impairment Renal insufficiency Polyhydramnios Protruding ear Small for gestational age Premature birth

Rare Symptoms - Less than 30% cases


Hypergonadotropic hypogonadism Hyposthenuria Increased circulating renin level Abnormality of extrapyramidal motor function Diabetes mellitus Hypothyroidism Low-to-normal blood pressure Renal potassium wasting Renal juxtaglomerular cell hypertrophy/hyperplasia Hyperprostaglandinuria Hyperactive renin-angiotensin system Increased serum prostaglandin E2 Hypercalcemia Choreoathetosis Chronic lung disease High forehead Abnormality of movement Skin rash Macrocephaly Weight loss Paresthesia Osteopenia Acidosis Delayed myelination Frontal bossing Hepatitis Chondrocalcinosis Hypotrichosis Short stature Polyneuropathy Nephrolithiasis Hypomagnesemia Cholestasis Rigidity Abnormal lung morphology Diabetes insipidus Depressed nasal ridge Motor delay Polydipsia High palate Visual impairment Elevated hepatic transaminase Abnormally large globe Hypertelorism Tubulointerstitial fibrosis Delayed speech and language development Abnormality of the fingernails Thrombocytopenia Edema Recurrent infections Hypogonadism Feeding difficulties Downslanted palpebral fissures Gait disturbance Dilatation Cognitive impairment Alopecia Abnormality of metabolism/homeostasis Intellectual disability, mild Arthrogryposis multiplex congenita Dystonia Macrotia Splenomegaly Congestive heart failure Generalized muscle weakness Inability to walk Vertigo Stroke Abnormality of eye movement Abnormality of the cerebral white matter Respiratory tract infection Metabolic acidosis Paralysis Abnormal cerebellum morphology Neurological speech impairment Coma Dyskinesia Diffuse telangiectasia Irritability Bilateral single transverse palmar creases Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Generalized hirsutism Recurrent pneumonia Low anterior hairline Aplasia/Hypoplasia of the skin Skin ulcer Lymphedema Abnormality of retinal pigmentation Thin skin Inflammatory abnormality of the skin Cutaneous photosensitivity Low posterior hairline Convex nasal ridge Asthma Abnormality of the hip bone Abnormality of the immune system Developmental regression Tremor Feeding difficulties in infancy Hypoglycemia Hyperhidrosis Dementia Encephalopathy Headache Myopathy Cardiomyopathy Dysphagia Spasticity Prolonged neonatal jaundice Ataxia Recurrent cystitis Migraine Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Hypoplasia of the zygomatic bone Gliosis Infantile encephalopathy Aciduria Constriction of peripheral visual field Hypoparathyroidism Vitiligo Primary adrenal insufficiency Thyroiditis Metaphyseal dysplasia Macular atrophy Abnormality of the thyroid gland Adrenal insufficiency Cholelithiasis Chronic sinusitis Hypopigmented skin patches Opacification of the corneal stroma Type I diabetes mellitus Hypocalcemia Sinusitis Chronic diarrhea Hypoplasia of dental enamel Cerebral calcification Increased circulating cortisol level Adrenal hyperplasia Hypotension Keratoconjunctivitis Decreased circulating parathyroid hormone level Salt craving Chronic active hepatitis Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Female hypogonadism Chronic hepatitis Alopecia areata Gastritis Antinuclear antibody positivity Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Achalasia Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Asplenia Pigmentary retinopathy Otitis media Neuronal loss in central nervous system Spastic diplegia Abnormality of the retinal vasculature Cerebral ischemia Ketonuria Generalized dystonia Malignant hyperthermia Bulbar palsy Opisthotonus Malnutrition Intracranial hemorrhage Decreased plasma carnitine Hemiplegia Encephalitis Hyperkinesis Leukoencephalopathy Cerebral palsy Joint dislocation Exercise intolerance Large fontanelles Dilation of lateral ventricles Fasting hypoglycemia Decreased antibody level in blood Rod-cone dystrophy Nausea Nausea and vomiting Malabsorption Autoimmunity Retinopathy Pallor Photophobia Reduced visual acuity Cataract Acute encephalopathy Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Glutaric aciduria Retinal hemorrhage Hirsutism Palmoplantar keratoderma Dental malocclusion Dry skin Portal fibrosis Azotemia Hypoplasia of the ear cartilage Periportal fibrosis Potter facies Hematemesis Hypersplenism Biliary tract abnormality Pain Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Cholangitis Esophageal varix Atelectasis Multiple renal cysts Absence of renal corticomedullary differentiation Arrhythmia Portal hypertension Parathyroid adenoma Short neck Abnormality of the skeletal system Growth delay Microcephaly Nephrogenic diabetes insipidus Parathyroid hyperplasia Hyperparathyroidism Ventricular arrhythmia Gastroesophageal reflux Strabismus Pseudohypoaldosteronism Hypocalciuria Impaired platelet aggregation Hyperthyroidism Hyperkalemia Enlarged kidney Polycystic kidney dysplasia Cerebral atrophy Fatigue Congenital sensorineural hearing impairment Hyponatremia Glomerulosclerosis Hydrops fetalis Postural instability Hyporeflexia Elfin facies Hypernatriuria Medullary nephrocalcinosis Infantile hypercalcemia Aortic valve stenosis Thick lower lip vermilion Pulmonic stenosis Lethargy Abnormality of the eye Decreased glomerular filtration rate Mesangial hypercellularity Chronic kidney disease Low-set, posteriorly rotated ears Renal hypoplasia/aplasia Hepatic fibrosis Oligohydramnios Renal cyst Pulmonary hypoplasia Scarring Abnormality of the kidney Respiratory failure Global glomerulosclerosis Atrial septal defect Respiratory distress Ventricular septal defect Hypertension Reduced renal corticomedullary differentiation Hypokalemic hypochloremic metabolic alkalosis Hypochloremic metabolic alkalosis Behavioral abnormality Areflexia Arachnodactyly Heart block Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Insulin-resistant diabetes mellitus Decreased serum insulin-like growth factor 1 Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Streak ovary Progressive extrapyramidal movement disorder Hypogonadotrophic hypogonadism Hyperkeratosis Genu valgum Carious teeth Pruritus Papule Erythema Proptosis Recurrent respiratory infections Hypoplasia of the fallopian tube Obesity Malar flattening Short nose Intellectual disability, severe Depressed nasal bridge Ptosis Progressive alopecia Purpura Hallucinations Abnormal heart morphology Protruding tongue Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Distal arthrogryposis Inverted nipples Abnormality of immune system physiology Peripheral neuropathy Adducted thumb Thick vermilion border Flat face Abnormality of the pinna Hypertrophic cardiomyopathy Proteinuria Jaundice Scoliosis Hyperreflexia Sparse scalp hair Prominent nose Primary amenorrhea Myocardial infarction Fine hair Psychosis Bilateral sensorineural hearing impairment Amenorrhea Decreased testicular size Sensory neuropathy Dysarthria Delayed puberty Prominent nasal bridge Sparse hair Camptodactyly Mental deterioration Micropenis Babinski sign Patchy atrophy of the retinal pigment epithelium



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