Abnormal facial shape, and Cirrhosis

Diseases related with Abnormal facial shape and Cirrhosis

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


Top matches:

Low match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Low match CCDC115-CDG


Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CCDC115-CDG

Low match DIHYDROPYRIMIDINURIA


Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

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Other less relevant matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Low match COG4-CDG


COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Low match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Low match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Low match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

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

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hypertension Triangular face Depressed nasal bridge Acidosis Hyperreflexia Feeding difficulties Cholestasis Hepatosplenomegaly Elevated hepatic transaminase Hepatic failure Atrial septal defect Generalized hypotonia Abnormality of the liver Cognitive impairment Diarrhea Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Ventricular septal defect Patent ductus arteriosus Thrombocytopenia Brain atrophy Abnormal pyramidal sign Abnormality of the kidney Generalized lipodystrophy Renal cyst Low-set ears Recurrent infections Hyperinsulinemia Spasticity Abnormality of the skeletal system Hypertonia Respiratory failure Ataxia Respiratory tract infection Hepatic steatosis Wide anterior fontanel Hepatic fibrosis Cardiomyopathy Hypertriglyceridemia Insulin resistance Malabsorption Acanthosis nigricans Lipodystrophy Coarctation of aorta Myopathy Cerebral atrophy Delayed speech and language development Intellectual disability Thick hair Anemia Umbilical hernia Small for gestational age Mandibular prognathia Hepatitis Chronic diarrhea Hernia Clitoral hypertrophy Hypertelorism Intractable diarrhea Jaundice Sepsis Cholestatic liver disease Hypercholesterolemia Tall stature Reduced intrathoracic adipose tissue Polycystic ovaries Telangiectasia Insulin-resistant diabetes mellitus at puberty Generalized muscular appearance from birth Labial hypertrophy Decreased liver function Cystic angiomatosis of bone Deep philtrum Hydrops fetalis Large hands Cutis laxa Pancreatitis Poor suck Accelerated skeletal maturation Situs inversus totalis Pancytopenia Hydronephrosis Asthma Decreased serum leptin Congenital generalized lipodystrophy Wide mouth Short philtrum Synophrys Decreased fertility in females Thin vermilion border Abnormal bleeding Oligohydramnios Skeletal muscle hypertrophy Prominent umbilicus Acute pancreatitis Bone cyst Long foot Edema Lipoatrophy Decreased fertility Polyphagia High pitched voice Patent foramen ovale Glaucoma Dextrocardia Renal hypoplasia Renal insufficiency Abnormal heart morphology Proteinuria Scarring Abnormal cardiac septum morphology Retinopathy Stroke Broad forehead Pruritus Pulmonic stenosis Hematuria Cyanosis Pigmentary retinopathy Tetralogy of Fallot Renal dysplasia Pancreatic hypoplasia Increased body weight Pointed chin Rickets Heart murmur Long nose Renal tubular acidosis Posterior embryotoxon Exocrine pancreatic insufficiency Poor coordination Pulmonary artery stenosis Wolff-Parkinson-White syndrome Peripheral pulmonary artery stenosis Butterfly vertebrae Dark urine Splenic cyst Pancreatic cysts Premature skin wrinkling Hypothyroidism Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Hearing impairment Sensorineural hearing impairment Epicanthus Long philtrum Pneumonia Diabetes mellitus Abnormality of the genital system Osteopenia Cystic renal dysplasia Congenital hypothyroidism Sagittal craniosynostosis Buphthalmos Esophageal varix Thoracolumbar scoliosis Hiatus hernia Enlarged kidney Congenital glaucoma Thin upper lip vermilion Portal hypertension Polycystic kidney dysplasia Choanal atresia Bilateral sensorineural hearing impairment Craniosynostosis Hyperlordosis Nephrolithiasis Irritability Hypertrichosis Extrapyramidal dyskinesia Abnormality of the cerebral white matter Anal atresia Short distal phalanx of finger Dyskinesia Metabolic acidosis Hip dysplasia Short phalanx of finger Plagiocephaly Infantile spasms Excessive daytime somnolence Reduced consciousness/confusion Morphological abnormality of the pyramidal tract Reduced dihydropyrimidine dehydrogenase activity Feeding difficulties in infancy Muscle weakness Muscular hypotonia Hyporeflexia Babinski sign Narrow mouth Dyspnea Poor speech Paresthesia Lactic acidosis Delayed myelination Increased serum lactate Blue sclerae Lethargy Talipes equinovarus Ragged-red muscle fibers Bloody diarrhea Wide nasal bridge Immunodeficiency Prominent forehead Sparse hair Wide nose Brittle hair Colitis Microcytic anemia Woolly hair Villous atrophy Trichorrhexis nodosa Hypochromic microcytic anemia Chronic hepatitis Copper accumulation in liver Pili canaliculi Uncombable hair Decreased serum iron Ptosis Skeletal muscle atrophy Downslanted palpebral fissures Elevated serum creatine phosphokinase Long face Prolonged neonatal jaundice Increased LDL cholesterol concentration Abnormal glycosylation Elevated alkaline phosphatase of bone origin Decreased serum ceruloplasmin Exercise intolerance Glucose intolerance Epidermal acanthosis Intermittent diarrhea Hypoplasia of the corpus callosum Absent speech Recurrent respiratory infections Muscular hypotonia of the trunk Sloping forehead Shock Recurrent upper respiratory tract infections Elevated alkaline phosphatase Failure to thrive in infancy Abnormality of the coagulation cascade Limb hypertonia Diffuse cerebral atrophy Generalized neonatal hypotonia Nystagmus Recurrent infection of the gastrointestinal tract Frontotemporal cerebral atrophy Neonatal sepsis Complex febrile seizures Type II transferrin isoform profile Abnormal protein O-linked glycosylation Fatal liver failure in infancy Abnormal protein N-linked glycosylation Intellectual disability, mild Macrotia Hypertrophic cardiomyopathy Hirsutism Fever Microcephaly Exertional dyspnea Mental deterioration Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Tremor Respiratory insufficiency Cerebellar atrophy Dystonia Encephalopathy Myoclonus Hyperactivity Gait ataxia Coarse facial features Developmental regression Reduced intraabdominal adipose tissue Sleep disturbance Neuronal loss in central nervous system Status epilepticus Tetraparesis Generalized hirsutism Brisk reflexes Reduced subcutaneous adipose tissue Limb dystonia Loss of speech Progressive encephalopathy Progressive psychomotor deterioration Caudate atrophy Poor motor coordination Axenfeld anomaly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Type I diabetes mellitus, related diseases and genetic alterations Hepatomegaly and Renal dysplasia, related diseases and genetic alterations Depressed nasal bridge and Arthralgia, related diseases and genetic alterations Nystagmus and Facial asymmetry, related diseases and genetic alterations Cataract and Single transverse palmar crease, related diseases and genetic alterations Muscular hypotonia and Postaxial polydactyly, related diseases and genetic alterations

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