Cleft palate, and Diarrhea

Diseases related with Cleft palate and Diarrhea

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


Top matches:

Low match RAPADILINO SYNDROME


RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPADILINO SYNDROME

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


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

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Other less relevant matches:

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match 3MC SYNDROME 1; 3MC1


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC SyndromeAlso see 3MC syndrome-2 (3MC2 ), caused by mutation in the COLEC11 gene (OMIM ), and 3MC syndrome-3 (3MC3 ), caused by mutation in the COLEC1 gene (OMIM ).

3MC SYNDROME 1; 3MC1 Is also known as michels syndrome, formerly|oculopalatoskeletal syndrome|craniosynostosis with lid anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 1; 3MC1

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low 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


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Low match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Low match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

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

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hydronephrosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Hearing impairment Vomiting Growth delay Atrial septal defect Abnormality of cardiovascular system morphology Failure to thrive Patent ductus arteriosus Strabismus Hypertelorism Global developmental delay Postnatal growth retardation Hypertension Generalized hypotonia Pectus excavatum Frontal bossing Anemia Delayed eruption of teeth Cutaneous photosensitivity Coarctation of aorta Sloping forehead Hypospadias Abnormal heart morphology Thrombocytopenia Depressed nasal bridge Neoplasm Ptosis Epicanthus Short foot Small hand Abnormality of the skeletal system Cleft upper lip Ventricular septal defect Telecanthus High palate Blepharophimosis Absent thumb Abnormal facial shape Syndactyly Anal atresia Absent radius Abdominal distention

Rare Symptoms - Less than 30% cases


Choanal atresia Wide nasal bridge Clinodactyly of the 5th finger Depressivity Low anterior hairline Low-set ears Pyloric stenosis Pollakisuria Anal stenosis Acute lymphoblastic leukemia Glaucoma Hypoplasia of the radius Chronic constipation Mandibular prognathia Microphthalmia Horseshoe kidney Recurrent urinary tract infections Aganglionic megacolon Short nose Hypogonadism Aplasia/Hypoplasia of the thumb Telangiectasia Otitis media Respiratory insufficiency Intrauterine growth retardation Seizures Macrotia Attention deficit hyperactivity disorder Small for gestational age Fine hair Sparse scalp hair Lymphoma Aplasia/Hypoplasia of the corpus callosum Aplasia/Hypoplasia of the patella Underdeveloped supraorbital ridges Supernumerary nipple Sacral dimple Spina bifida occulta Wide anterior fontanel Submucous cleft hard palate Growth hormone deficiency Patellar aplasia Chronic diarrhea Craniosynostosis Vesicoureteral reflux Nystagmus Cataract Abnormality of the liver Dilatation Abnormal cardiac septum morphology Skeletal muscle atrophy Fever Asthma Polyhydramnios Toe syndactyly Pneumonia Abnormality of the dentition Feeding difficulties Short thumb Intestinal malrotation Gastrointestinal hemorrhage Rectovaginal fistula Constipation Pain Prominent nasal bridge Umbilical hernia Low-set, posteriorly rotated ears Poikiloderma Anomalous pulmonary venous return Phocomelia Concave nasal ridge Total anomalous pulmonary venous return Hematemesis Corneal opacity Sensorineural hearing impairment Complete atrioventricular canal defect Abnormal eye morphology Small thenar eminence Abnormal morphology of the hippocampus Abnormality of the carpal bones Osteosarcoma Acantholysis Skin erosion Proportionate short stature Zonular cataract Thoracic scoliosis Scoliosis Short clavicles Heart block Truncus arteriosus Forearm reduction defects Down-sloping shoulders Bilateral radial aplasia Talipes equinovarus Juvenile cataract Annular pancreas Secundum atrial septal defect Allergy Duodenal stenosis Iris atrophy Ecchymosis Quadricuspid aortic valve Alopecia Hip dislocation Erythema Neoplasm of the skin Congenital hip dislocation Short palpebral fissure Microdontia Hypodontia Microcornea Sparse hair Sarcoma Lactose intolerance Hypopigmentation of the skin Large basal ganglia Short palm Pulmonary artery sling Flat face Skin rash Dermal atrophy Tibial torsion Partial duplication of thumb phalanx Flexion contracture Aplasia of the ulna Short digit Osteoporosis Anteriorly placed anus Increased number of teeth Skin vesicle Hyperkeratosis Mesoaxial polydactyly Aplasia of the pectoralis major muscle Agenesis of permanent teeth Patellar subluxation Kyphoscoliosis Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Skeletal dysplasia Nail dystrophy Hypoplastic toenails Generalized muscle hypertrophy Focal-onset seizure Absence seizures Pointed chin Postnatal microcephaly Abnormality of the genital system Recurrent otitis media Open mouth Dehydration Tetralogy of Fallot Febrile seizures Esotropia Cutaneous syndactyly Brain atrophy Tapered finger Everted lower lip vermilion Iris coloboma Falls Pulmonic stenosis Abnormality of the cerebral white matter Neurological speech impairment Finger syndactyly Short philtrum Prominent nasal tip Widely spaced teeth Camptodactyly of finger Hallux valgus Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis External ear malformation Drowsiness Ectopic kidney Rocker bottom foot Drooling Cupped ear Bifid scrotum Large earlobe Broad hallux phalanx Broad columella Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Poor suck Esodeviation Abnormality of the genitourinary system Pectus carinatum Coloboma Brachydactyly Eczema Hypoparathyroidism Delayed cranial suture closure Metatarsus adductus Cutis marmorata Bruxism Sandal gap Abnormality of the fingernails Narrow face Broad thumb Abnormality of skin pigmentation Atypical absence seizures Dry skin Joint hyperflexibility Malabsorption Wide mouth Protruding ear Delayed skeletal maturation Recurrent infections Uplifted earlobe Hydrocephalus Myopia Abnormality of the antihelix Sparse lateral eyebrow Abnormality of the kidney Ventriculomegaly Anxiety Deeply set eye High forehead Cerebral cortical atrophy Posteriorly rotated ears Agenesis of corpus callosum Absent speech Behavioral abnormality Intellectual disability, severe Hypoplasia of the corpus callosum Downslanted palpebral fissures Rectal prolapse Broad eyebrow Motor delay Subglottic stenosis Deep plantar creases Muscular hypotonia Abnormality of thumb phalanx Happy demeanor Abnormality of female external genitalia Short humerus Abnormality of neutrophils Oligodactyly Recurrent bronchitis Atrioventricular canal defect Achalasia Prune belly Microcolon Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Episodic abdominal pain Urethral obstruction Hyperparathyroidism Disproportionate tall stature Hydroureter Anonychia Malnutrition Intestinal obstruction Portal hypertension Hypoalbuminemia External ophthalmoplegia Megacystis Barrett esophagus Interphalangeal joint contracture of finger Oral cleft Short 5th finger Coronal craniosynostosis Bilateral cleft lip Broad foot Radioulnar synostosis Spina bifida Dental crowding Omphalocele Highly arched eyebrow Abnormality of eye movement Neuroma Cleft lip Muscular hypotonia of the trunk Conductive hearing impairment Hernia Intellectual disability, mild Cognitive impairment Megaduodenum Hypoperistalsis Gastrointestinal obstruction Pancreatitis Overgrowth Bilateral cleft lip and palate Macrocephaly Keratitis Hyponatremia Cutis laxa Abnormal intestine morphology Bifid uvula Metabolic acidosis Single transverse palmar crease Acidosis Abnormality of metabolism/homeostasis Stiff interphalangeal joints Mild short stature Slender nose Mottled pigmentation Patellar hypoplasia Aplasia/Hypoplasia of the radius Narrow palpebral fissure Joint dislocation Short chin High, narrow palate Long face Preauricular pit Abnormality of digit Round face Dysphagia Arachnodactyly Narrow chest Ophthalmoplegia Broad forehead Joint stiffness Weight loss Abdominal pain Myopathy Anteverted nares Peripheral neuropathy Corneal erosion Thin vermilion border Hypermetropia Autistic behavior Intractable diarrhea Secretory diarrhea Protracted diarrhea Ureteral duplication Villous atrophy Optic nerve coloboma Diastasis recti Bilateral conductive hearing impairment Limited elbow extension Recurrent infection of the gastrointestinal tract Respiratory distress Fatigue Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly T-cell lymphoma Polydactyly B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Clinodactyly Hepatosplenomegaly Acute leukemia Eosinophilia Petechiae Hypoplastic left heart Right bundle branch block Bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Triphalangeal thumb Atrioventricular block Aortic regurgitation Nausea Finger clinodactyly Aortic valve stenosis Bradycardia Abnormal vertebral morphology Atrial fibrillation Epistaxis Mitral valve prolapse Abnormality of the cardiovascular system Bruising susceptibility Abnormal eyelid morphology Hearing abnormality Conjunctival telangiectasia Short neck Mental deterioration Intellectual disability, moderate Abnormality of the nervous system Retrognathia Respiratory failure Hyperactivity Upslanted palpebral fissure Recurrent respiratory infections Immunodeficiency Muscle weakness Hemolytic anemia Ataxia Abnormality of the occipital bone Single interphalangeal crease of fifth finger Skull asymmetry Caudal appendage Cranial asymmetry Epicanthus inversus Abnormal anterior chamber morphology Lambdoidal craniosynostosis Leukemia Neurodegeneration Neuroblastoma Cachexia Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Recurrent pneumonia Prominent nose Lymphopenia Abnormality of the hair Sinusitis Cafe-au-lait spot Bronchiectasis Abnormality of the face Primary amenorrhea Amenorrhea Convex nasal ridge Aplasia/Hypoplasia of the cerebral white matter



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