Abnormal facial shape, and Hepatic steatosis

Diseases related with Abnormal facial shape and Hepatic steatosis

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

Top matches:

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

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

Other less relevant matches:

Low match PGM1-CDG

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-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

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hepatic steatosis

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertriglyceridemia Acanthosis nigricans Global developmental delay Insulin resistance Splenomegaly Hypertension Cirrhosis Seizures Hirsutism Intellectual disability, mild Lipodystrophy Prominent forehead Generalized hypotonia Diabetes mellitus Generalized lipodystrophy Cognitive impairment Acute pancreatitis Polycystic ovaries Skeletal muscle hypertrophy Lipoatrophy Hyperinsulinemia Microcephaly Spasticity Abnormality of the liver Decreased serum leptin Congestive heart failure Growth delay Micrognathia Hepatosplenomegaly Failure to thrive

Rare Symptoms - Less than 30% cases

Type II transferrin isoform profile Wide nasal bridge Umbilical hernia Macrotia Mandibular prognathia Hernia Congenital generalized lipodystrophy Hypoglycemia Respiratory distress Macrovesicular hepatic steatosis Hyperhidrosis Reduced subcutaneous adipose tissue Anemia Thrombocytopenia Generalized hirsutism Generalized muscular appearance from birth Epidermal acanthosis Triangular face Clitoral hypertrophy Decreased fertility in females Bone cyst Long foot Polyphagia High pitched voice Prominent umbilicus Epicanthus Insulin-resistant diabetes mellitus at puberty Reduced intrathoracic adipose tissue Pancreatitis Accelerated skeletal maturation Tall stature Labial hypertrophy Nephrolithiasis Abnormality of the genital system Hypertrichosis Large hands Cystic angiomatosis of bone Insulin-resistant diabetes mellitus Decreased liver function Short stature Dilatation Cerebral atrophy Round face Dystonia Intrauterine growth retardation Cerebellar atrophy Myopathy Tremor Hyperreflexia Delayed speech and language development Ataxia Coarse facial features Developmental regression Respiratory tract infection Abnormal pyramidal sign Cholestasis Sensorineural hearing impairment Recurrent infections Cerebral cortical atrophy Immunodeficiency Diarrhea Vomiting Hypoplasia of the corpus callosum Retrognathia Polydactyly Hyperkeratosis Polyhydramnios Neonatal hypotonia Aggressive behavior Muscular hypotonia of the trunk Abnormal cardiac septum morphology Arthrogryposis multiplex congenita Malabsorption Postaxial polydactyly Ventriculomegaly Sleep disturbance Talipes equinovarus Acroosteolysis of distal phalanges (feet) Progeroid facial appearance Osteolytic defects of the phalanges of the hand Xanthomatosis Precocious atherosclerosis Decreased HDL cholesterol concentration Advanced eruption of teeth Supraventricular arrhythmia Abnormal atrioventricular conduction Narrow nasal ridge Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Accelerated atherosclerosis Increased adipose tissue around the neck Minimal subcutaneous fat Increased intraabdominal fat Hydronephrosis Nephropathy Abnormal bleeding Abnormality of the ovary Angina pectoris Oligomenorrhea Abnormality of lipid metabolism Hyperlipidemia Autoimmunity Decreased adiponectin level Joint laxity Postnatal growth retardation Peripheral neuropathy Proximal upper limb muscle hypertrophy Muscle hypertrophy of the lower extremities Increased facial adipose tissue Glioma Hypohidrosis Decreased antibody level in blood Thickened skin Pectus carinatum Hip dislocation Synophrys Abnormality of the foot Wide nose Thick vermilion border Macroglossia Brain atrophy Delayed myelination Cerebral calcification Abnormal lung morphology Long eyelashes Joint contracture of the hand Proteinuria Bone marrow hypocellularity Coarse hair Glomerulosclerosis Focal segmental glomerulosclerosis Barrel-shaped chest Tubular atrophy Dysostosis multiplex Beaking of vertebral bodies Large forehead Flared iliac wings Acetabular dysplasia J-shaped sella turcica Obstructive lung disease Telecanthus Skeletal dysplasia Focal-onset seizure Abnormal cortical gyration Hip dysplasia Decreased fetal movement Pancytopenia Chronic diarrhea Aplasia/Hypoplasia of the skin Lymphopenia Hyperbilirubinemia Abnormal intestine morphology Inflammation of the large intestine Loss of consciousness Combined immunodeficiency Neurodevelopmental delay Proximal tubulopathy Recurrent respiratory infections Impaired T cell function Micronodular cirrhosis Hearing impairment Gastrointestinal inflammation Abnormal T cell morphology Flexion contracture Optic atrophy Abnormality of the skeletal system Short neck Atrial septal defect Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Secondary amenorrhea Microvesicular hepatic steatosis Coronary artery atherosclerosis Type I transferrin isoform profile Chest pain Hepatitis Cardiac arrest Hypogonadotrophic hypogonadism Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Chronic hepatitis Muscle cramps Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Abnormal protein glycosylation Hypertonia Respiratory insufficiency Elevated serum alanine aminotransferase Elevated serum aspartate aminotransferase Abdominal aortic aneurysm Bifid uvula Tachycardia Elevated circulating follicle stimulating hormone level Muscle weakness Status epilepticus Tetraparesis Mental deterioration Brisk reflexes Limb dystonia Loss of speech Progressive encephalopathy Gait ataxia Progressive psychomotor deterioration Caudate atrophy Poor motor coordination Reduced intraabdominal adipose tissue Cleft palate Delayed puberty Fever Fatigue Respiratory failure Hyperactivity Elevated serum creatine phosphokinase Myoclonus Hypogonadism Hypothyroidism Dyspnea Encephalopathy Cleft lip Dilated cardiomyopathy Elevated circulating luteinizing hormone level Skin tags Premature graying of hair Hyperglycemia Coma Gliosis Increased serum lactate Peripheral demyelination Intention tremor Broad-based gait Low anterior hairline Truncal ataxia Shock Leukoencephalopathy Tachypnea Poor suck Anteriorly placed anus Highly arched eyebrow Increased CSF lactate Stroke-like episode Breathing dysregulation CNS demyelination Neuronal loss in central nervous system Congenital lactic acidosis Increased hepatocellular lipid droplets Myalgia Thin skin Abnormality of the nail Atherosclerosis Ventricular arrhythmia Metabolic acidosis Lactic acidosis Slender long bone CNS hypomyelination Glycosuria Glucose intolerance Cone-shaped epiphysis Aortic aneurysm Decreased fertility Metaphyseal widening Microretrognathia Ventricular hypertrophy Thick hair Retinal detachment Severe short stature Hyperextensible skin Hypertelorism Stroke Strabismus Muscular hypotonia Full cheeks Dysphagia Anteverted nares Hepatic failure Malar flattening Midface retrusion Absent speech Hypospadias Cerebellar hypoplasia Acidosis Hypoplastic acetabulae


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypopigmentation of the skin, related diseases and genetic alterations Ventricular septal defect and Ambiguous genitalia, related diseases and genetic alterations Hepatomegaly and Hypoplasia of the maxilla, related diseases and genetic alterations Delayed speech and language development and Pectus carinatum, related diseases and genetic alterations Strabismus and Primary amenorrhea, related diseases and genetic alterations Muscular hypotonia and Cognitive impairment, related diseases and genetic alterations