Abnormal facial shape, and Abnormality of the liver

Diseases related with Abnormal facial shape and Abnormality of the liver

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


Top matches:

Low match HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY


The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY Is also known as pigm-cdg|congenital disorder of glycosylation due to pigm deficiency|glycosylphosphatidylinositol biosynthesis defect 1|gpibd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5


Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Low match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3


Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

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Other less relevant matches:

Low match POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

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 PERIPHERAL RESISTANCE TO THYROID HORMONES


Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about PERIPHERAL RESISTANCE TO THYROID HORMONES

Low match THYROID HYPOPLASIA


Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about THYROID HYPOPLASIA

Low match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Low match NEPHRONOPHTHISIS 15; NPHP15


Related symptoms:

  • Seizures
  • Global developmental delay
  • Nystagmus
  • Abnormal facial shape
  • Blindness


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 15; NPHP15

Low match RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME


Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome|central hypothyroidism due to trh receptor deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of the liver

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Large fontanelles Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Macroglossia Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Constipation Muscular hypotonia Abnormality of the face Seizures Growth delay

Rare Symptoms - Less than 30% cases


Intellectual disability Umbilical hernia Hepatomegaly Hypertelorism Nystagmus Elevated hepatic transaminase Cerebellar vermis hypoplasia Jaundice Sleep disturbance Abdominal distention Hepatosplenomegaly Hypertension Cirrhosis Wide nose Hepatitis Brittle hair Decreased serum iron Colitis Pili canaliculi Intractable diarrhea Chronic hepatitis Bloody diarrhea Chronic diarrhea Hypochromic microcytic anemia Trichorrhexis nodosa Villous atrophy Woolly hair Microcytic anemia Uncombable hair Thyroid hypoplasia Short stature Encephalocele Prolonged neonatal jaundice Generalized hypotonia Congenital blindness Nephronophthisis Bronchiectasis Hepatic failure Retinal degeneration Polydactyly Obesity Blindness Molar tooth sign on MRI Hepatic fibrosis Retinal dystrophy Fatigue Astigmatism Abnormality of eye movement Coloboma Abnormality of the eye Intellectual disability, moderate Rod-cone dystrophy Agenesis of corpus callosum Hydrocephalus Ventriculomegaly Cataract Sparse hair Intellectual disability, severe Small for gestational age Anemia Prominent forehead Lactic acidosis Edema Strabismus Increased serum pyruvate Ketosis Abnormality of coagulation Abnormality of mitochondrial metabolism Poor suck Hyperammonemia Tachypnea Decreased liver function Increased serum lactate Metabolic acidosis Hypoglycemia Polyhydramnios Acidosis Vomiting Epicanthus Cognitive impairment Paroxysmal nocturnal hemoglobinuria Portal vein thrombosis Hemoglobinuria Atonic seizures Portal hypertension Venous thrombosis Absence seizures Bone marrow hypocellularity Splenomegaly Upslanted palpebral fissure Synophrys Immunodeficiency Recurrent urinary tract infections Diarrhea Intrauterine growth retardation Wide nasal bridge Depressed nasal bridge Failure to thrive Multiple glomerular cysts Renal cortical cysts Hepatic cysts Elevated serum creatinine Dextrocardia Polycystic kidney dysplasia Multicystic kidney dysplasia Situs inversus totalis Oligohydramnios Flat face Renal cyst Nephropathy Hematuria Stage 5 chronic kidney disease Facial asymmetry Abnormality of the kidney Respiratory failure Midface retrusion Renal insufficiency Facial edema Protein-losing enteropathy Abnormal intestine morphology Lymphedema Large posterior fontanelle



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