Cleft palate, and Abnormality of the liver

Diseases related with Cleft palate and Abnormality of the liver

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

Top matches:

OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3

Related symptoms:

  • Cleft palate
  • Hydrocephalus
  • Polydactyly
  • Postaxial polydactyly
  • Renal cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about MECKEL SYNDROME, TYPE 3; MKS3

Other less relevant matches:

Related symptoms:

  • Cleft palate
  • Microphthalmia
  • Polydactyly
  • Cleft lip
  • Abnormality of the kidney


SOURCES: MESH OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 5; MKS5

Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Related symptoms:

  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Polydactyly
  • Cleft lip


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 6; MKS6

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Top 5 symptoms//phenotypes associated to Cleft palate and Abnormality of the liver

Symptoms // Phenotype % cases
Bile duct proliferation Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Renal cyst Uncommon - Between 30% and 50% cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases
Encephalocele Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cleft palate and Abnormality of the liver. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Occipital encephalocele Postaxial polydactyly Anencephaly Cleft upper lip Intrauterine growth retardation Bowing of the long bones Microphthalmia Dandy-Walker malformation Hydrocephalus

Rare Symptoms - Less than 30% cases

Cleft lip Hepatic fibrosis Failure to thrive Growth delay Meningocele Meningoencephalocele Hypoplasia of the corpus callosum Ventricular septal defect Short stature Hearing impairment Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Dysplastic corpus callosum Decreased activity of mitochondrial complex I Muscle stiffness Macrovesicular hepatic steatosis Ragged-red muscle fibers Leukoencephalopathy Spastic tetraparesis Low-set ears Cholestasis Tetraparesis Bradykinesia Increased serum lactate Micrognathia Jaundice Anemia Congenital diaphragmatic hernia Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Broad neck Macrocytic anemia Ectopic kidney Atresia of the external auditory canal Choanal atresia Microtia Respiratory insufficiency Conductive hearing impairment Lactic acidosis Posteriorly rotated ears Patent ductus arteriosus Hernia Midface retrusion Malar flattening Respiratory distress Hepatic steatosis Visual impairment Ophthalmoplegia Hand polydactyly Agenesis of cerebellar vermis Molar tooth sign on MRI Renal dysplasia Atrial septal defect Microcephaly Cystic liver disease Abnormal internal genitalia Pulmonary hypoplasia Cataract Oral cleft Talipes equinovarus Postaxial foot polydactyly Abnormality of the urinary system Abnormality of the kidney Cystic renal dysplasia Multicystic kidney dysplasia Sensorineural hearing impairment Myopia Abnormality of the cerebral white matter Dystonia Irritability Developmental regression Elevated hepatic transaminase Neonatal hypotonia Acidosis Hypospadias Absent speech Hepatomegaly Retinopathy Ptosis Spasticity Generalized hypotonia Global developmental delay Seizures Abnormal vitreous humor morphology Retinal detachment Corneal opacity Mandibulofacial dysostosis


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