Cleft palate, and Colitis

Diseases related with Cleft palate and Colitis

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


Top matches:

Low match FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2


Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

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Other less relevant matches:

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Low match DIAMOND-BLACKFAN ANEMIA 7; DBA7


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:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Low match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

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

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Neoplasm Bifid uvula High palate Retrognathia Short stature Arachnodactyly Cleft lip Atrial septal defect Anemia Spina bifida Bicuspid aortic valve Abnormality of the pinna Hydrocephalus Umbilical hernia Tetralogy of Fallot Growth delay Strabismus Hernia Micrognathia Microcephaly Abnormality of the skeletal system Myelomeningocele Microphthalmia Hiatus hernia Graves disease Dilatation Cognitive impairment Osteoporosis Esophagitis Intrauterine growth retardation Ptosis Abnormality of cardiovascular system morphology Obesity Abnormal heart morphology Abnormality of the sternum Inflammation of the large intestine Mitral valve prolapse Aortic dissection Exotropia Ulcerative colitis Arnold-Chiari malformation Iris coloboma Cleft upper lip Mitral regurgitation Truncus arteriosus Pectus excavatum Global developmental delay Muscular hypotonia Gastroesophageal reflux Downslanted palpebral fissures Camptodactyly Specific learning disability Flexion contracture Low-set ears Cryptorchidism Blepharophimosis Recurrent infections Pulmonic stenosis

Rare Symptoms - Less than 30% cases


Overgrowth Spondylolisthesis Renal agenesis Thrombocytopenia Arterial tortuosity Cholelithiasis Thin skin Soft skin Aortic aneurysm Neutropenia Aortic regurgitation Horseshoe kidney Multicystic kidney dysplasia Osteoarthritis Immunodeficiency Dental malocclusion Abnormal cardiac septum morphology Short thumb Chorea Short nose Fatigue Bulbous nose Hemolytic anemia Arthritis Hypothyroidism Fetal distress Reticulocytopenia Microtia Increased mean corpuscular volume Posteriorly rotated ears Hydronephrosis Joint laxity Macrocytic anemia Vesicoureteral reflux Behavioral abnormality Triphalangeal thumb Ventricular hypertrophy Hypoplasia of the corpus callosum Amenorrhea Purpura Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Renal dysplasia Hypocalcemia Posterior embryotoxon Craniosynostosis Schizophrenia Abnormality of the hand Autoimmune thrombocytopenia Autoimmune hemolytic anemia Abnormality of the middle ear Acne Unilateral renal agenesis Nasal speech Psoriasiform dermatitis Primary amenorrhea Low posterior hairline Rheumatoid arthritis Arteria lusoria Migraine Bruising susceptibility Ectopia lentis Pes planus Short neck Fever Delayed speech and language development Sacral meningocele Right aortic arch with mirror image branching Aplasia of the thymus Seizures Telangiectasia of the skin Conotruncal defect Retinal vascular tortuosity Duodenal stenosis Impaired T cell function Right aortic arch Abnormal facial shape Perimembranous ventricular septal defect Generalized hypotonia Interrupted aortic arch Cleft soft palate Autoimmunity Aortic root aneurysm Motor delay Sprengel anomaly Vertebral fusion Pyloric stenosis Patent foramen ovale Stridor Disproportionate tall stature Decreased muscle mass Kyphoscoliosis Spina bifida occulta Short ribs Pain Cataract Long face Femoral hernia Brachydactyly Macrocephaly Abnormality of the dentition Syndactyly Hypotrichosis Papule Coloboma Sparse hair Brachycephaly Telecanthus Abdominal pain Polydactyly Proptosis Short metatarsal Pierre-Robin sequence Blue sclerae Short philtrum Short palpebral fissure Coxa valga Conductive hearing impairment Broad nasal tip Congenital hip dislocation Delayed puberty Pointed chin Broad face Talipes equinovarus Scarring Short metacarpal Wide nasal bridge Redundant skin Pulmonary artery atresia Respiratory distress Congestive heart failure Abnormality of the endocrine system Echolalia Avascular necrosis of the capital femoral epiphysis Delusions Abnormal myocardium morphology Hearing abnormality Myopia Median cleft lip and palate Underdeveloped nasal alae Hypertension Arterial stenosis Long palm Platybasia Mood swings Keratoglobus Increased arm span Dysmetria Paranoia Abnormal carotid artery morphology Giant platelets Velopharyngeal insufficiency Cervical spine instability Malar flattening Respiratory failure Myocarditis Narrow palpebral fissure Hip dysplasia Myocardial infarction Cardiorespiratory arrest Cardiac arrest Holoprosencephaly Pulmonary artery stenosis Prematurely aged appearance Joint hyperflexibility Hallucinations Open mouth Coxa vara Keratoconus Psychosis Hyperextensible skin Dysdiadochokinesis Apathy Clinodactyly of the 5th finger Macrotia Peripheral demyelination Anal stenosis Rocker bottom foot Dyspnea Submucous cleft hard palate Axonal loss Basal ganglia calcification Obsessive-compulsive behavior Abnormality of the ear Myopathic facies Hypertrophic cardiomyopathy Hypoplasia of the brainstem Hip dislocation Dilated cardiomyopathy Psychotic episodes Polymicrogyria Bilateral coxa valga Vascular tortuosity Anterior segment developmental abnormality Uterine neoplasm Small hypothenar eminence Hypoplasia of the thymus Vitamin D deficiency Alcoholism Perisylvian polymicrogyria Abnormality of the thymus Secundum atrial septal defect Anal atresia Esophoria Recurrent lower respiratory tract infections Accommodative esotropia Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Atresia of the external auditory canal Midface retrusion Tetany Sclerocornea Choanal atresia Tracheomalacia Generalized tonic-clonic seizures Attention deficit hyperactivity disorder High, narrow palate Abnormality of the kidney Narrow mouth Hypertonia Persistence of hemoglobin F Coarctation of aorta Acute leukemia Abnormality of the urinary system Amblyopia Melanoma Abnormality of the genital system Depressed nasal ridge Thick lower lip vermilion Autistic behavior Pallor Autism Arrhythmia Broad thumb Hyporeflexia Recurrent otitis media Arterial dissection Celiac disease Syncope Tall stature Left ventricular hypertrophy Joint contracture of the hand Atrioventricular block Cerebral hemorrhage Atrial fibrillation Reduced subcutaneous adipose tissue Long palpebral fissure Back pain Headache Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Astigmatism Ascending aortic dissection Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Joint hypermobility Slender finger Neonatal hypotonia Hip osteoarthritis Osteopenia Polyhydramnios Knee osteoarthritis Uterine prolapse Intervertebral disc degeneration Protrusio acetabuli Abdominal aortic aneurysm Dural ectasia Pectus carinatum Small for gestational age Abnormal joint morphology Thoracic aortic aneurysm Osteochondritis Dissecans Low back pain Dolichocephaly Arthrogryposis multiplex congenita Smooth philtrum Dilatation of the cerebral artery Subarachnoid hemorrhage Striae distensae Failure to thrive Abnormal cornea morphology Congenital cataract Astrocytoma Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Brain neoplasm Short distal phalanx of the thumb Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Thoracic scoliosis Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Severe hydrocephalus Palmar pits Nephritis Optic atrophy Cough Camptodactyly of finger Erythema Reduced visual acuity Weight loss Hyperhidrosis Agenesis of corpus callosum Alopecia Clinodactyly Blindness Dysphagia Nystagmus Orbital cyst Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Melanocytic nevus Glomerulonephritis Finger syndactyly Abnormality of the genitourinary system Sclerotic vertebral endplates Subglottic stenosis Ulnar deviation of the hand Fused cervical vertebrae Neurogenic bladder Tracheal stenosis Hip contracture Dislocated radial head Hyperostosis Prominent supraorbital ridges Deep philtrum Joint dislocation Ataxia Finger clinodactyly Low anterior hairline Bowing of the long bones Webbed neck Full cheeks Hirsutism Thick eyebrow Feeding difficulties in infancy Skeletal dysplasia Intellectual disability, mild Depressed nasal bridge Sensorineural hearing impairment Large joint dislocations Spasticity Relative macrocephaly Palmoplantar keratoderma Neoplasm of the skin Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Bradycardia Hyperpigmentation of the skin Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Nevus Postaxial polydactyly Epicanthus Oral cleft Carious teeth Facial palsy Proteinuria Carcinoma EEG abnormality Coarse facial features Mandibular prognathia Glaucoma Visual loss Frontal bossing Dysarthria Corneal opacity Nail dystrophy Mental deterioration Ureteral duplication Reticular hyperpigmentation Absent fingernail Foot oligodactyly Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Hand oligodactyly Bifid nose Patchy alopecia Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Upper limb asymmetry Absence of the sacrum Aplasia/Hypoplasia of the lungs Giant cell tumor of bone Aggressive behavior Anxiety Hyperactivity Dementia Depressivity Hypospadias Absent speech Cerebellar atrophy Intellectual disability, severe Midclavicular aplasia Midclavicular hypoplasia Apocrine hidrocystoma Ridged fingernail Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Stenosis of the external auditory canal Split foot Pruritus Renal hypoplasia Abnormality of dental enamel Increased body weight Abnormality of the nail Hoarse voice Short phalanx of finger Abnormality of epiphysis morphology Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Omphalocele Split hand Interphalangeal joint contracture of finger Oligodontia Congenital diaphragmatic hernia Postaxial hand polydactyly Abnormality of the skin Nail dysplasia Ectodermal dysplasia Intestinal malrotation Hypodontia Delayed eruption of teeth Abnormality of skin pigmentation Facial asymmetry Abnormality of the foot Toe syndactyly Renal hypoplasia/aplasia Recurrent skin infections Hypoplasia of the iris Macule Foot polydactyly Aniridia Short clavicles Oligodactyly Ectrodactyly Facial cleft Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Abnormality of digit Aplasia/Hypoplasia of the skin Narrow nasal bridge Mixed hearing impairment Reduced number of teeth Short finger Hypermelanotic macule Supernumerary nipple Open bite Mild short stature Anophthalmia Abnormality of dental morphology Chorioretinal coloboma Ectropion Hand polydactyly Brittle hair Dermal atrophy Abnormality of the zygomatic bone



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Arachnodactyly, related diseases and genetic alterations Hepatomegaly and Progressive visual loss, related diseases and genetic alterations Fever and Chronic myelogenous leukemia, related diseases and genetic alterations Edema and Metabolic acidosis, related diseases and genetic alterations Low-set ears and Metabolic acidosis, related diseases and genetic alterations Micrognathia and Hyperreflexia, related diseases and genetic alterations

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