Cleft palate, and Gastrointestinal hemorrhage
Diseases related with Cleft palate and Gastrointestinal hemorrhage
In the following list you will find some of the most common rare diseases related to Cleft palate and Gastrointestinal hemorrhage that can help you solving undiagnosed cases.
Top matches:
Low match DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3
DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital
Related symptoms:
- Short stature
- Hypertelorism
- Micrognathia
- Cleft palate
- Low-set ears
More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3
Low match 22Q11.2 MICRODUPLICATION SYNDROME
The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.
22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about 22Q11.2 MICRODUPLICATION SYNDROMELow match HOLT-ORAM SYNDROME; HOS
Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).
HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1
Related symptoms:
- Intellectual disability
- Short stature
- Failure to thrive
- Micrognathia
- Cleft palate
More info about HOLT-ORAM SYNDROME; HOS
Other less relevant matches:
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 SYNDROMELow match 22Q11.2 DELETION SYNDROME
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about 22Q11.2 DELETION SYNDROME
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 DEFECTLow match PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
- Scoliosis
- High palate
- Visual impairment
- Hypertension
- Myopia
More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
- Seizures
- Anemia
- Hypertension
- Dyspnea
- Cirrhosis
More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy
Related symptoms:
- Pain
- Vomiting
- Diarrhea
- Acidosis
- Metabolic acidosis
SOURCES: OMIM ORPHANET MENDELIAN
More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHYEhlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency
Related symptoms:
- Muscle weakness
- Muscular hypotonia
- Pain
- Peripheral neuropathy
- Skeletal muscle atrophy
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCYTop 5 symptoms//phenotypes associated to Cleft palate and Gastrointestinal hemorrhage
| Symptoms // Phenotype | % cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Hypertension | Uncommon - Between 30% and 50% cases |
| Muscular hypotonia | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Cleft palate and Gastrointestinal hemorrhage. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Scoliosis Failure to thrive Ventricular septal defect Abnormality of cardiovascular system morphology Short stature Micrognathia Hypertelorism Low-set ears Atrial septal defect Hydrocephalus Generalized hypotonia Microcephaly Growth delay Strabismus Cirrhosis Thrombocytopenia Ptosis Downslanted palpebral fissures Mitral valve prolapse Tetralogy of Fallot Patent ductus arteriosus Hypoplastic left heart Prominent nasal bridge Vomiting Intestinal malrotation Syndactyly DiarrheaRare Symptoms - Less than 30% cases
Epistaxis Abnormality of the pharynx Abnormality of the kidney Anomalous pulmonary venous return Splenomegaly Coarctation of aorta Double outlet right ventricle Frontal bossing Total anomalous pulmonary venous return Toe syndactyly Nasal speech Laryngomalacia Visual impairment Inguinal hernia Aortic valve stenosis Quadricuspid aortic valve Anal atresia Pulmonary arterial hypertension Encephalocele Hematemesis Abnormality of the skeletal system Abnormal heart morphology Abnormal cardiac septum morphology Abnormal pulmonary valve morphology Oligodactyly Acidosis Polyhydramnios Bruising susceptibility Optic nerve coloboma Pain Fatigue Abnormality of the liver Anemia Truncus arteriosus Arteriosclerosis Asthma Telangiectasia Cerebral hemorrhage Portal hypertension Specific learning disability Cataract Hyponatremia Depressed nasal bridge Joint hyperflexibility High palate Bifid uvula Abnormal facial shape Choanal atresia Abnormal intestine morphology Microphthalmia Hearing impairment Brachydactyly Dilatation Spina bifida Cerebellar hypoplasia Intractable diarrhea Arachnodactyly Long face Villous atrophy Vesicoureteral reflux Macrocephaly Epicanthus Polydactyly Feeding difficulties in infancy Intrauterine growth retardation Myalgia Attention deficit hyperactivity disorder Arthritis Apnea Anxiety Metabolic acidosis Talipes equinovarus Congenital hepatic fibrosis Autism Esophageal varix Wide nasal bridge Single transverse palmar crease Behavioral abnormality Intellectual disability, severe Oral cleft Abnormality of the eye Stage 5 chronic kidney disease Abnormality of eye movement Coloboma Intellectual disability, moderate Wide mouth Cholestasis Iris coloboma Multicystic kidney dysplasia Molar tooth sign on MRI Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Chronic kidney disease Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Hepatic fibrosis Retinal dystrophy Elevated hepatic transaminase Cerebellar vermis hypoplasia Apraxia Postaxial hand polydactyly Round face Renal cyst Highly arched eyebrow Nephropathy Abnormality of the nervous system Foot polydactyly Agenesis of corpus callosum Patellar dislocation Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Meningocele Abnormality of the skull Multiple renal cysts Hypoparathyroidism Hypoplasia of the thymus Turricephaly Bipolar affective disorder Abnormal lung lobation Chronic otitis media Acne Dysphasia Bowel incontinence Hyperthyroidism Posterior embryotoxon Tetany Seborrheic dermatitis Renal insufficiency Overfolded helix Anteverted nares Gait disturbance Tremor Hepatomegaly Hyperreflexia Spasticity Nystagmus Ataxia Occipital myelomeningocele Abnormality of the tonsils Abnormal thrombocyte morphology Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Impaired T cell function Arrhinencephaly Platybasia Abnormal aortic valve morphology Small earlobe Dyspnea Nephronophthisis Protein-losing enteropathy Joint laxity Proximal muscle weakness Arthralgia Arrhythmia Hernia Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Enterocolitis Malnutrition Stroke Hypoalbuminemia Hypercholesterolemia Hyperlipidemia Sepsis Fingerpad telangiectases Gastrointestinal arteriovenous malformation Gastrointestinal telangiectasia Nail bed telangiectasia Palate telangiectasia Tongue telangiectasia Scarring Joint hypermobility Hepatic arteriovenous malformation Adrenal hyperplasia Ambiguous genitalia, female Congenital adrenal hyperplasia Rectal prolapse Poor wound healing Muscle fiber splitting Increased connective tissue Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Hiatus hernia Sensory neuropathy Adrenal hypoplasia Soft skin Atrophic scars Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Hyperextensible skin Spina bifida occulta Thin skin Ambiguous genitalia Nasal mucosa telangiectasia Pulmonary arteriovenous malformation Occipital encephalocele Kyphosis Retinal hemorrhage Angina pectoris Abnormality of the sternum Macular degeneration Blue sclerae High, narrow palate Skin rash Reduced visual acuity Visual loss Myopia Angioid streaks of the fundus Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Aplasia/Hypoplasia of the cerebellar vermis Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Cholestatic liver disease Neoplasm of the liver Abnormality of abdomen morphology Biparietal narrowing Intermittent claudication Calcification of falx cerebri Spinal arteriovenous malformation Transient ischemic attack Brain abscess Right-to-left shunt Choriocapillaris atrophy Gastrointestinal angiodysplasia Lip telangiectasia Cerebral arteriovenous malformation Spontaneous, recurrent epistaxis Melena Conjunctival telangiectasia Hematochezia Subarachnoid hemorrhage Peau d'orange Polycythemia Clubbing Ischemic stroke Cyanosis Migraine Hand polydactyly Yellow papule Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Medial calcification of large arteries Abnormality of the thorax Aplastic/hypoplastic toenail Cholelithiasis Bradycardia Bowing of the legs Triphalangeal thumb Atrioventricular block Hypoplasia of the radius Eosinophilia Aortic regurgitation Finger clinodactyly Horseshoe kidney Abnormal vertebral morphology Menorrhagia Short thumb Atrial fibrillation Abnormality of the cardiovascular system Nausea Hepatosplenomegaly Clinodactyly Pectus excavatum Respiratory distress Bilateral trilobed lungs Hypoplasia of the ulna Bundle branch block Aplasia/Hypoplasia of the thymus Secundum atrial septal defect Aplasia of the ulna Partial duplication of thumb phalanx Abnormality of the carpal bones Small thenar eminence Phocomelia Complete atrioventricular canal defect Ecchymosis Allergy Down-sloping shoulders Right bundle branch block Heart block Short clavicles Thoracic scoliosis Absent radius Short humerus Atrioventricular canal defect Absent thumb Limited elbow extension Petechiae Subependymal cysts Displacement of the external urethral meatus Mesoaxial polydactyly Protracted diarrhea Abnormality of the pinna Hydronephrosis High forehead Mandibular prognathia Prominent forehead Midface retrusion Delayed speech and language development Secretory diarrhea Ureteral duplication Poor speech Rectovaginal fistula Corneal erosion Abnormality of digit Mild short stature Preauricular pit Keratitis Cutis laxa Abdominal distention Abnormality of metabolism/homeostasis Neurological speech impairment Smooth philtrum Persistent left superior vena cava Abnormality of immune system physiology Common atrium Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Interrupted aortic arch Heterotaxy Abdominal situs inversus Dyslexia Transposition of the great arteries Wide nose Obsessive-compulsive behavior Stridor Abnormality of the genitourinary system Sleep apnea Narrow face Situs inversus totalis Stereotypy Depressed nasal ridge Thick vermilion border Short digit Aplasia of the pectoralis major muscle Polycystic kidney dysplasia Aplasia cutis congenita on trunk or limbs Immunodeficiency Malar flattening Long philtrum Intellectual disability, mild Abnormality of the dentition Short neck Optic atrophy Cryptorchidism Aplasia cutis congenita over posterior parietal area Depressivity Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Venous malformation Absent fingernail Absent hand Chylothorax Obesity Hypospadias Periventricular leukomalacia Carious teeth Schizophrenia Hypopigmented skin patches Purpura Abnormality of dental enamel Hypocalcemia Aganglionic megacolon Renal hypoplasia Bulbous nose Short philtrum Constipation Autoimmunity Telecanthus Conductive hearing impairment Umbilical hernia Gastroesophageal reflux Hypothyroidism Narrow mouth Glaucoma Upslanted palpebral fissure Aplasia cutis congenita of scalp Porencephalic cyst Tibial torsion Finger syndactyly Premature birth Ascites Short distal phalanx of finger Polymicrogyria Cleft upper lip Talipes Pulmonic stenosis Leukemia Sparse hair Nail dysplasia EEG abnormality Osteopenia Alopecia Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Cognitive impairment Patellar subluxation Lactose intolerance Esotropia Small nail Abnormality of the upper limb Cutaneous finger syndactyly Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Pulmonary artery stenosis Central hypotonia Aplasia cutis congenita Aplasia/Hypoplasia of the skin Hemiparesis Cortical dysplasia Supernumerary nipple Cutis marmorata Abnormality of the metacarpal bones Bicuspid aortic valve Leukopenia Meningitis Pachygyria Split hand Premature arteriosclerosisIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Dyskinesia, related diseases and genetic alterations Brachydactyly and Abdominal pain, related diseases and genetic alterations High palate and Deeply set eye, related diseases and genetic alterations Ptosis and Hypertonia, related diseases and genetic alterations Abnormal facial shape and Arachnodactyly, related diseases and genetic alterations Anemia and Gastrointestinal hemorrhage, related diseases and genetic alterations