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:
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
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
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
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
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
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
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
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
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
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
|
Accelerate your rare disease diagnosis with us
Learn more
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 Postaxial hand polydactyly, related diseases and genetic alterations
Depressed nasal bridge and Sarcoma, 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 Neutropenia, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more