Cleft palate, and Situs inversus totalis

Diseases related with Cleft palate and Situs inversus totalis

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


Top matches:

Medium match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Medium match HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1


HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Medium match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

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Other less relevant matches:

Medium match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Medium 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 SYNDROME

Medium match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Medium match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Medium match JOUBERT SYNDROME


Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Medium match JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

Top 5 symptoms//phenotypes associated to Cleft palate and Situs inversus totalis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Situs inversus totalis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Dextrocardia Seizures Hydrocephalus Micrognathia Growth delay Abnormal heart morphology Atrial septal defect Strabismus Abnormal facial shape Low-set ears Muscular hypotonia Microcephaly Transposition of the great arteries Ptosis Cryptorchidism Hypospadias Talipes equinovarus Renal agenesis Hypertelorism Anal atresia Intrauterine growth retardation Epicanthus Intellectual disability, severe High palate Hearing impairment Heterotaxy Common atrium Foot polydactyly Hypoplastic left heart Microphthalmia Low-set, posteriorly rotated ears Hand polydactyly Dandy-Walker malformation Abnormality of the kidney Encephalocele Severe short stature Multicystic kidney dysplasia Hydronephrosis Short stature Respiratory tract infection Long face Apnea Anteverted nares Pulmonary hypoplasia Feeding difficulties Tetralogy of Fallot Intestinal malrotation Polyhydramnios Narrow mouth Agenesis of corpus callosum Iris coloboma

Rare Symptoms - Less than 30% cases


Renal hypoplasia/aplasia Joint contracture of the hand Arachnodactyly Abnormality of the sternum Mild short stature Renal dysplasia High, narrow palate Abnormal vertebral morphology Pectus carinatum Renal hypoplasia Joint stiffness Abnormal form of the vertebral bodies Polydactyly Pectus excavatum Postnatal growth retardation Narrow face Mandibular prognathia Abnormality of the ribs Abnormality of the pinna Behavioral abnormality Attention deficit hyperactivity disorder Delayed speech and language development Specific learning disability Generalized hypotonia Hydroureter Laryngomalacia Nasal speech Skeletal muscle atrophy Epispadias Abnormality of female internal genitalia Aplasia/Hypoplasia of the lungs Long philtrum Camptodactyly Anxiety Abnormality of the hair Radioulnar synostosis Oral cleft Cataract Duodenal atresia Asplenia Double outlet right ventricle Oligohydramnios Ataxia Nystagmus Tremor Cerebellar hypoplasia Gait disturbance Patent ductus arteriosus Prominent nasal bridge Polymicrogyria Postaxial hand polydactyly Highly arched eyebrow Cerebellar vermis hypoplasia Aganglionic megacolon Oculomotor apraxia Biparietal narrowing Abnormality of the hypothalamus-pituitary axis Abnormal pattern of respiration Abnormality of the outer ear Holoprosencephaly Hypoplasia of the maxilla Retrognathia Posteriorly rotated ears Downslanted palpebral fissures Talipes Abdominal situs inversus Preaxial hand polydactyly Anencephaly Depressed nasal ridge Aplasia/Hypoplasia of the corpus callosum Postaxial foot polydactyly Ambiguous genitalia Thin upper lip vermilion Macrotia Brachycephaly Diabetes mellitus Upslanted palpebral fissure Preaxial polydactyly Protruding ear Pes cavus Alopecia Clinodactyly of the 5th finger Cerebral atrophy Malar flattening Intellectual disability, mild Blindness Abnormality of the nervous system Vertebral segmentation defect Sparse hair Non-midline cleft lip Coloboma Short philtrum Spastic paraplegia Cavernous hemangioma Hypermetropia Paraplegia Feeding difficulties in infancy Bulbous nose Tethered cord Triangular face Prominent nose Right bundle branch block Occipital encephalocele Abnormality of neuronal migration Wide nasal bridge Retinal dystrophy Colpocephaly Single umbilical artery Visual loss Distal arthrogryposis Restlessness Submucous cleft hard palate Absent septum pellucidum Primitive reflex Tracheal stenosis Rectovaginal fistula Molar tooth sign on MRI Decreased muscle mass Atelectasis Metatarsus adductus Mask-like facies Abnormality of the upper urinary tract Limb joint contracture Hyperreflexia Aplasia/Hypoplasia of the radius Wheezing Spasticity Sensorineural hearing impairment Abnormal anatomic location of the heart Fixed facial expression Absent radius Aplasia/Hypoplasia involving the skeletal musculature Episodic tachypnea Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Esophageal atresia Missing ribs Bundle branch block Supernumerary ribs Ectopic kidney Abnormal cardiac septum morphology Tachycardia Facial asymmetry Bifid scrotum Finger syndactyly Vertebral clefting Unilateral renal agenesis Pneumonia Vesicoureteral reflux Syndactyly Congestive heart failure Dysphagia Anemia Abnormal hair laboratory examination Decreased head circumference Laryngeal stenosis Premature birth Lower limb undergrowth Large fontanelles Tachypnea Hemivertebrae Spina bifida Preauricular skin tag Triphalangeal thumb Short thumb Recurrent urinary tract infections Abnormality of the nasopharynx Abnormality of the genital system Omphalocele Hypoplasia of the brainstem Choanal atresia Small nail Congenital diaphragmatic hernia Hypoplasia of penis Narrow foot Round ear Hypoplasia of the radius Chorioretinal coloboma Hemifacial hypoplasia Abnormality of the pancreas Abnormality of the gallbladder Abnormal sacrum morphology Potter facies Perineal fistula Tracheoesophageal fistula Cupped ear Failure to thrive in infancy Abnormal tracheobronchial morphology Asymmetric crying face Poor suck Cachexia Patent urachus Decreased testicular size Absence of the sacrum Spastic diplegia Abnormality of the intervertebral disk Broad columella Phimosis Moderately short stature Macrodontia Abnormality of the urethra Anteverted ears Anorectal anomaly Thin eyebrow High hypermetropia Abnormality of the rib cage Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge Ureteropelvic junction obstruction Obsessive-compulsive behavior Myotonia True hermaphroditism Nail dystrophy Skeletal dysplasia Delayed skeletal maturation Abnormality of the dentition Abnormality of the skeletal system Cystic liver disease Lobar holoprosencephaly Pancreatic fibrosis Genu valgum Aplasia/Hypoplasia of the tongue Urethral atresia Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Accessory spleen Pancreatic cysts Ureteral duplication Narrow chest Micromelia Furrowed tongue Heterotopia Cubitus valgus Abnormality of pelvic girdle bone morphology Short long bone Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Short ribs Limb undergrowth Cleft upper lip Microdontia Nail dysplasia Ectodermal dysplasia Hypodontia Delayed eruption of teeth Postaxial polydactyly Short distal phalanx of finger Thin vermilion border Congenital hepatic fibrosis Sclerocornea Emphysema Mandibular aplasia Arrhythmia Synotia Aglossia Proboscis Alobar holoprosencephaly Laryngeal hypoplasia Hypoplasia of the epiglottis Hyperplasia of the maxilla Pulmonic stenosis Stenosis of the external auditory canal Microglossia Tracheomalacia Atresia of the external auditory canal Hypotelorism Abnormality of the eye Conductive hearing impairment Respiratory distress Recurrent respiratory infections Dyskinesia Male pseudohermaphroditism Dextrotransposition of the great arteries Anophthalmia Bowing of the long bones Sloping forehead Full cheeks Microcornea Optic atrophy Posteriorly placed anus Mitral atresia Cardiomegaly Pulmonary artery hypoplasia Single ventricle Biliary atresia Pulmonary artery atresia Polysplenia Myelomeningocele Abnormal lung lobation Ciliary dyskinesia Hypoplastic toenails Thoracic hypoplasia Congenital contracture Displacement of the external urethral meatus Short neck Ventriculomegaly Motor delay Flexion contracture Bilateral trilobed lungs Subependymal cysts Aplasia/Hypoplasia of the thymus Persistent left superior vena cava Myopathy Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Total anomalous pulmonary venous return Abnormality of the pharynx Interrupted aortic arch Anomalous pulmonary venous return Hypoplasia of the corpus callosum Kyphosis Abnormality of immune system physiology Bifid uvula Pyloric stenosis Abnormality of the urinary system Wide anterior fontanel Abnormality of the face Short palpebral fissure Interphalangeal joint contracture of finger Peripheral demyelination Arthrogryposis multiplex congenita Areflexia Muscular dystrophy Camptodactyly of finger Blepharophimosis Aggressive behavior Kyphoscoliosis Micropenis Hyperactivity Inguinal hernia Dyslexia Stridor Short thorax Hypoplastic iliac wing Abnormal oral frenulum morphology Abnormality of bone marrow cell morphology Neonatal short-limb short stature Abnormal oral mucosa morphology Horizontal ribs Abnormal hair quantity Thoracic dysplasia Acute leukemia Capitate-hamate fusion Upper limb undergrowth Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Agenesis of permanent teeth Conical incisor Congenital megaureter Abnormality of the genitourinary system Neurological speech impairment Sleep apnea Stereotypy Gastrointestinal hemorrhage Thick vermilion border Wide nose Smooth philtrum Poor speech High forehead Short iliac bones Autism Prominent forehead Midface retrusion Brachydactyly Depressed nasal bridge Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of the alveolar ridges Acetabular spurs Retinal coloboma



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