Cleft palate, and Anal atresia

Diseases related with Cleft palate and Anal atresia

In the following list you will find some of the most common rare diseases related to Cleft palate and Anal atresia 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 MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

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

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Other less relevant matches:

Medium match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Medium match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Medium match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Medium match PFEIFFER SYNDROME TYPE 2


Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Medium match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Medium 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

Medium match TETRA-AMELIA


Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

Top 5 symptoms//phenotypes associated to Cleft palate and Anal atresia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Choanal atresia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft upper lip Conductive hearing impairment Hearing impairment Intestinal malrotation Atrial septal defect High palate Ventricular septal defect Global developmental delay Asplenia Wide nasal bridge Patent ductus arteriosus Short stature Finger syndactyly Narrow mouth Abnormal facial shape Syndactyly Abnormality of the eye Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


Median cleft palate Ectopic anus Flat face Hydrocephalus High forehead Cerebellar hypoplasia Renal agenesis Toe syndactyly Myelomeningocele Overfolded helix Short nose Sensorineural hearing impairment Unilateral cleft lip Malar flattening Abnormality of metabolism/homeostasis Cutaneous syndactyly Bilateral cleft lip Short philtrum Bifid uvula Underdeveloped nasal alae Renal hypoplasia/aplasia Oral cleft Abnormality of vision Renal dysplasia Vertebral fusion Tracheomalacia Cryptorchidism Transposition of the great arteries Pulmonary hypoplasia Polyhydramnios Intellectual disability Posteriorly rotated ears Abnormal heart morphology Respiratory distress Failure to thrive Talipes equinovarus Hypoplasia of the maxilla Situs inversus totalis Atresia of the external auditory canal Holoprosencephaly Carious teeth Broad hallux phalanx Aqueductal stenosis Ectodermal dysplasia Single naris Hypodontia Cloverleaf skull Clinodactyly Abnormality of the dentition Hallux varus Deviation of the thumb Sparse hair Hypothyroidism Neoplasm Laryngomalacia Tetraphocomelia Upslanted palpebral fissure Blindness Short hallux Limitation of joint mobility Increased intracranial pressure Cervical C2/C3 vertebral fusion Abnormality of the vertebral column Sprengel anomaly Abnormal cranial nerve morphology Adrenal gland agenesis Fused cervical vertebrae Short sternum Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Abnormal vertebral segmentation and fusion Arnold-Chiari malformation Decreased cervical spine mobility Limited neck range of motion Seizures Depressed nasal bridge Visual loss Proptosis Small hand Short foot Hypoplasia of the fallopian tube Broad thumb Small nail Abnormality of the genital system Opacification of the corneal stroma Mild short stature Amniotic constriction ring Abnormality of the liver Single transverse palmar crease Metabolic acidosis Abdominal distention Gastrointestinal hemorrhage Abnormal intestine morphology Cutis laxa Hyponatremia Keratitis Preauricular pit Abnormality of digit Diarrhea Hypoplastic pelvis Corneal erosion Optic nerve coloboma Rectovaginal fistula Villous atrophy Single umbilical artery Ureteral duplication Protracted diarrhea Secretory diarrhea Intractable diarrhea Anencephaly Cataract Acidosis Vomiting Microphthalmia Abnormal hair quantity Oligodontia Tetraamelia Reduced number of teeth Absent external genitalia Ectropion Amelia Abnormal eyelid morphology Bilateral cleft lip and palate High anterior hairline Urethral atresia Conical tooth Distichiasis Macrocephaly Abnormality of the diaphragm Gastroschisis Phocomelia Long penis Vaginal atresia Epidermoid cyst Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Hemiplegia/hemiparesis Multiple rows of eyelashes Hirsutism Spina bifida Polysplenia Arrhythmia Recurrent respiratory infections Respiratory tract infection Pulmonic stenosis Dyskinesia Oligohydramnios Cardiomegaly Dextrocardia Ciliary dyskinesia Abnormal lung lobation Double outlet right ventricle Duodenal atresia Hydrometrocolpos Pulmonary artery atresia Abdominal situs inversus Heterotaxy Biliary atresia Common atrium Single ventricle Pulmonary artery hypoplasia Mitral atresia Dextrotransposition of the great arteries Posteriorly placed anus Hernia Glandular hypospadias Urethral stricture Mandibular prognathia Proboscis Downslanted palpebral fissures Retrognathia Hypotelorism Abnormality of the outer ear Microglossia Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Aglossia Urogenital sinus anomaly Synotia Brachydactyly Hydronephrosis Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Multicystic kidney dysplasia Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Inguinal hernia Feeding difficulties in infancy Low posterior hairline Upper eyelid coloboma Wide anterior fontanel Generalized hirsutism Cupped ear Bilateral talipes equinovarus Long fingers Prominent metopic ridge Short clavicles Broad neck Short columella Widow's peak Velopharyngeal insufficiency Scoliosis Narrow chest Cognitive impairment Short neck Abnormality of cardiovascular system morphology Polydactyly Abnormality of the kidney Abnormality of the pinna Facial asymmetry Postaxial polydactyly Webbed neck Wide intermamillary distance Abnormality of the ribs Talipes Microtia Protruding ear 2-3 toe syndactyly Blepharophimosis Coloboma Abnormal cardiac septum morphology Prominent nasal bridge Thin vermilion border Prominent nose Renal hypoplasia Short palpebral fissure Preauricular skin tag Narrow palpebral fissure Abnormal palate morphology Mixed hearing impairment Craniosynostosis External ear malformation Eyelid coloboma Hypomimic face Secundum atrial septal defect Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Delayed speech and language development Midface retrusion Brachycephaly Gastroesophageal reflux Peripheral pulmonary vessel aplasia



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