Cleft palate, and Cirrhosis

Diseases related with Cleft palate and Cirrhosis

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


Top matches:

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

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Other less relevant matches:

Low match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Low match NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Low match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Low match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Low match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Low match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Top 5 symptoms//phenotypes associated to Cleft palate and Cirrhosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Anteverted nares Hypertelorism Abnormal facial shape Muscular hypotonia Strabismus Ascites Portal hypertension Abnormality of the liver Wide nasal bridge High palate Gastrointestinal hemorrhage Short stature Intrauterine growth retardation Hepatic fibrosis Elevated hepatic transaminase Frontal bossing Low-set ears Cyanosis Abnormality of eye movement Hypoplasia of the corpus callosum Wide mouth Dilatation Abnormality of the eye Cerebellar hypoplasia Pulmonic stenosis Macrocephaly Depressed nasal bridge Esophageal varix Spasticity Delayed puberty Telangiectasia Hernia Ventricular septal defect Abnormal heart morphology Inguinal hernia Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Thrombocytosis Neonatal hypotonia Osteoporosis Edema Apnea Spinal arteriovenous malformation Stroke Congestive heart failure Jaundice Ichthyosis Hepatic failure Wide nose Hypoalbuminemia Sepsis Polyhydramnios Encephalopathy Narrow mouth Hearing impairment Leukopenia Dolichocephaly Central hypotonia Congenital hepatic fibrosis Venous malformation Retinopathy Cardiomyopathy Pancytopenia Small for gestational age Broad forehead Respiratory tract infection Hyperreflexia Long philtrum Cerebral atrophy Absent speech Overgrowth Large fontanelles Feeding difficulties Hematemesis Polycythemia Subarachnoid hemorrhage Transient ischemic attack Hematochezia Conjunctival telangiectasia Melena Spontaneous, recurrent epistaxis Clubbing Cerebral arteriovenous malformation Lip telangiectasia Gastrointestinal angiodysplasia Right-to-left shunt Nasal mucosa telangiectasia Brain abscess Hepatic arteriovenous malformation Cerebral hemorrhage Encephalocele Pulmonary arteriovenous malformation Abnormality of the nervous system Fingerpad telangiectases Multicystic kidney dysplasia Elevated alkaline phosphatase Ataxia Nystagmus Gastrointestinal arteriovenous malformation Gastrointestinal telangiectasia Intellectual disability, moderate Epistaxis Nail bed telangiectasia Renal cyst Cholestasis Palate telangiectasia Dyspnea Migraine Tongue telangiectasia Ischemic stroke Visual impairment Round face Behavioral abnormality Obesity Osteopenia Ptosis Flexion contracture Esotropia Brachydactyly Syndactyly Cognitive impairment Short neck Premature birth Tetralogy of Fallot Short distal phalanx of finger Ventriculomegaly Hydrocephalus Short nose Atrial septal defect Prominent nasal bridge Scoliosis Sparse hair Abnormality of the kidney Thrombocytopenia Cataract Patent ductus arteriosus Alopecia Joint laxity Depressivity Pulmonary arterial hypertension Cleft upper lip Microcephaly Generalized-onset seizure Interstitial pulmonary abnormality Polymicrogyria Hypodontia Small nail Woolly hair Depressed nasal ridge Immunodeficiency Diarrhea Villous atrophy Intellectual disability, mild Dilatation of celiac artery Dilatation of mesenteric artery Venous varicosities of celiac and mesenteric vessels Large forehead Iron deficiency anemia Underdeveloped supraorbital ridges Prominent forehead Curly hair Proptosis Abnormality of the pinna Abnormality of the immune system Brittle hair Microtia Recurrent upper respiratory tract infections Aortic regurgitation Dry skin Abnormality of the hair Aciduria Chronic diarrhea Fine hair Bifid uvula Arteriovenous fistula Visual auras Deeply set eye Rickets Tachypnea Hypocalcemia Decreased liver function Abnormal lung morphology Oligohydramnios Hepatic steatosis Cough Hypoglycemia Vitamin D deficiency Gastroesophageal reflux Recurrent infections Vomiting Respiratory insufficiency Pectus excavatum Clinodactyly Hyperactivity Abdominal pain Umbilical hernia Bile duct proliferation Anasarca High-output congestive heart failure Hypoxemia Arteriovenous fistulas of celiac and mesenteric vessels Coronary artery aneurysm Hemangiomatosis Pulmonary hemorrhage Polycystic liver disease Focal sensory seizure Abnormal thrombocyte morphology Migraine with aura Abnormality of the vasculature Vitamin A deficiency Hemoptysis Scleroderma Pericardial effusion Atherosclerosis Hematuria Nausea Visual loss Headache Small scrotum Abnormality of the pancreas Humoral immunodeficiency Peripheral pulmonary artery stenosis Abdominal distention Insulin resistance Dental crowding Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Growth hormone deficiency Decreased antibody level in blood Nevus Triangular face Pointed chin Astigmatism Infertility Hepatosplenomegaly Diabetes mellitus Hypogonadism Severe short stature Dysarthria Motor delay Increased body weight Acanthosis nigricans Elevated levels of phytanic acid Myocardial fibrosis Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Microglossia Reduced tendon reflexes Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis High pitched voice Nephroblastoma Premature ovarian insufficiency Cachexia Neoplasm Very long chain fatty acid accumulation Trichorrhexis nodosa Large placenta Midface retrusion Cryptorchidism Optic atrophy Skeletal muscle atrophy Epicanthus Delayed speech and language development Sensorineural hearing impairment Abnormalities of placenta or umbilical cord Abnormality of iron homeostasis Rod-cone dystrophy Galactosuria Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Arrhythmia Acidosis Progressive spinal muscular atrophy Progressive muscle weakness Hyperoxaluria Hypocholesterolemia Epiphyseal stippling Severe hearing impairment Constriction of peripheral visual field Impulsivity Spinal muscular atrophy Leukodystrophy Rhizomelia High forehead Abnormality of epiphysis morphology Nephrolithiasis Abnormality of the face Convex nasal ridge Congenital cataract Nyctalopia Pain Postnatal growth retardation Facial palsy Pes planus Split hand Camptodactyly Retrognathia Abnormality of the skeletal system Talipes equinovarus Hypertonia Developmental regression Microphthalmia Abnormality of cardiovascular system morphology Muscular hypotonia of the trunk Coarse facial features Micropenis Hemolytic anemia Respiratory failure Cerebral cortical atrophy Upslanted palpebral fissure Myoclonus Posteriorly rotated ears Pneumonia EEG abnormality Malar flattening Downturned corners of mouth Generalized myoclonic seizures Cerebellar atrophy Postnatal microcephaly Redundant skin Curved linear dimple below the lower lip Deep philtrum Widely spaced teeth Cervical spine hypermobility Cerebral visual impairment Gingival overgrowth Tall stature Inflammatory abnormality of the skin Gliosis Hypsarrhythmia Limb undergrowth Microdontia Neuronal loss in central nervous system Epileptic encephalopathy Webbed neck Vesicoureteral reflux Delayed myelination Abnormal cardiac septum morphology Finger syndactyly Overfolded helix Aplasia/Hypoplasia of the skin Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Coarctation of aorta Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Cortical dysplasia Hypoplastic fingernail Hypoplastic left heart Supernumerary nipple Cutis marmorata Abnormality of the metacarpal bones Bicuspid aortic valve Meningitis Aortic valve stenosis Hemiparesis Abnormality of the lower limb Pulmonary artery atresia Leukemia Cutis marmorata telangiectatica congenita Toe syndactyly Talipes Micrognathia Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Absent toe Abnormality of the upper limb Abnormal pulmonary valve morphology Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Nail dysplasia Scaling skin Large for gestational age Attention deficit hyperactivity disorder Abnormality of neuronal migration Cholestatic liver disease Neoplasm of the liver Optic nerve coloboma Abnormality of abdomen morphology Biparietal narrowing Occipital encephalocele Nephronophthisis Molar tooth sign on MRI Aplasia/Hypoplasia of the cerebellum Abnormal pattern of respiration Chorioretinal coloboma Chronic kidney disease Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Broad foot Genu recurvatum Cerebellar vermis hypoplasia Apraxia Abnormality of the hypothalamus-pituitary axis Aplasia/Hypoplasia of the cerebellar vermis Intestinal malrotation Abnormality of the genital system Hypermetropia Joint hypermobility Choriocapillaris atrophy Short palm Short foot Single transverse palmar crease Hypoplasia of the maxilla Pachygyria Lymphedema Multiple small medullary renal cysts Increased intracranial pressure Radial deviation of finger Mild short stature Broad palm Macrocytic anemia Shawl scrotum Hypoplasia of the odontoid process Intrahepatic biliary atresia Chronic hepatic failure Postaxial hand polydactyly Short 5th finger Prominent occiput Hemoglobinuria Increased upper to lower segment ratio Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Seborrheic dermatitis Frontoparietal polymicrogyria Breech presentation Developmental stagnation High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Absent septum pellucidum Infantile spasms Prominent umbilicus Osteochondritis Dissecans Highly arched eyebrow Feeding difficulties in infancy Nephropathy Retinal dystrophy Iris coloboma Long face Stage 5 chronic kidney disease Oral cleft Coloboma Widow's peak Large earlobe Tremor Volvulus Broad philtrum Polydactyly Agenesis of corpus callosum Renal insufficiency Splenomegaly Intellectual disability, severe Hyperextensibility of the finger joints Gait disturbance Pericardial constriction



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Hypopigmentation of the skin, related diseases and genetic alterations Delayed speech and language development and Headache, related diseases and genetic alterations High palate and Frontal bossing, related diseases and genetic alterations Strabismus and Hip dysplasia, related diseases and genetic alterations

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