Cleft palate, and Dental malocclusion

Diseases related with Cleft palate and Dental malocclusion

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


Top matches:

Medium match CLEFT PALATE, ISOLATED; CPI


Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see {119530}).Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see {119570}.

CLEFT PALATE, ISOLATED; CPI Is also known as cp|cleft palate

Related symptoms:

  • Seizures
  • Micrognathia
  • Cleft palate
  • Cleft lip
  • Oral cleft


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEFT PALATE, ISOLATED; CPI

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2


Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

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Other less relevant matches:

Medium match AURICULOCONDYLAR SYNDROME


Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Medium match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Medium match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Medium match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Medium 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

Medium match TREACHER COLLINS SYNDROME 1; TCS1


Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

Top 5 symptoms//phenotypes associated to Cleft palate and Dental malocclusion

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Cleft lip Cryptorchidism Macrocephaly Midface retrusion Cupped ear Glossoptosis Atresia of the external auditory canal Anteverted nares Wide nasal bridge Upslanted palpebral fissure Microcephaly Protruding ear High palate Epicanthus Iris coloboma Microphthalmia Preauricular skin tag Apnea Patent ductus arteriosus Agenesis of permanent teeth Feeding difficulties Narrow mouth Respiratory distress

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Ptosis Bilateral microphthalmos Abnormal heart morphology Visual impairment Abnormality of the dentition Choanal atresia Encephalocele Broad forehead Ventricular septal defect Reduced number of teeth Atrial septal defect Obstructive sleep apnea Abnormality of the pinna Abnormal facial shape Short neck Hypospadias Conductive hearing impairment Telecanthus Wide mouth Coloboma Microtia Scoliosis Long nose Camptodactyly Inguinal hernia Hernia Cataract Seizures Abnormality of the outer ear Lacrimal duct stenosis Anterior open-bite malocclusion Hypoplastic superior helix Mandibular condyle hypoplasia Question mark ear Mandibular condyle aplasia Round face Full cheeks Hirsutism Speech articulation difficulties Low-set, posteriorly rotated ears Overfolding of the superior helices Snoring Cleft at the superior portion of the pinna Generalized hypotonia Posteriorly rotated ears Dental crowding Gingival overgrowth Brachydactyly Short nose Oral cleft Ankylosis Cleft soft palate Facial cleft Frontal bossing High anterior hairline Perimembranous ventricular septal defect Mild microcephaly Low hanging columella Velopharyngeal insufficiency Blue sclerae Lower eyelid coloboma Endometriosis Left-to-right shunt Kyphosis Webbed neck Muscular ventricular septal defect Depressed nasal bridge Proptosis Clinodactyly Thin lower lip vermilion Overlapping toe Short stature Long philtrum Upper eyelid coloboma Downturned corners of mouth Anal atresia Unilateral renal agenesis Retrognathia Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Hypoplasia of the pharynx Absent paranasal sinuses Myopia Projection of scalp hair onto lateral cheek Widely spaced primary teeth Intellectual disability, mild High forehead Deeply set eye Premature ovarian insufficiency Ectopic adrenal gland Sparse lower eyelashes Blepharophimosis Abnormal cardiac septum morphology Carious teeth Long eyelashes Renal agenesis Short palpebral fissure Recurrent urinary tract infections Pointed chin Horseshoe kidney Broad thumb Sleep apnea Short phalanx of finger Hip osteoarthritis Abnormality of the sternum Slender finger Abnormal joint morphology Striae distensae Subarachnoid hemorrhage Dilatation of the cerebral artery Soft skin Aortic dissection Spondylolisthesis Low back pain Osteochondritis Dissecans Thoracic aortic aneurysm Arterial tortuosity Aortic aneurysm Dural ectasia Abdominal aortic aneurysm Protrusio acetabuli Intervertebral disc degeneration Uterine prolapse Knee osteoarthritis Strabismus Respiratory insufficiency Malar flattening Abnormality of cardiovascular system morphology Choanal stenosis Visual loss Sparse eyelashes Disproportionate tall stature Back pain Patent foramen ovale Pes planus Tricuspid regurgitation Mesomelia Anteriorly placed anus Pulmonary artery atresia Pain Mandibulofacial dysostosis Accessory spleen Anotia Abnormality of the skeletal system Headache Dilatation Osteoporosis Umbilical hernia Joint laxity Diastema Pulmonic stenosis Arachnodactyly Bruising susceptibility Migraine Mitral valve prolapse Ventricular hypertrophy Atrial fibrillation Osteoarthritis Mitral regurgitation Left ventricular hypertrophy Aortic regurgitation Abnormality of the nose Bicuspid aortic valve Hypoplastic right heart Gingival fibromatosis Hypoplasia of teeth Microglossia Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Sensorineural hearing impairment Facial asymmetry Bifid uvula External ear malformation Stenosis of the external auditory canal Median cleft lip and palate Impaired mastication Hamartoma of tongue Difficulty in tongue movements Abnormality of the temporomandibular joint Hypoplasia of first ribs Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft helix Abnormality of the crus of the helix Postauricular skin tag Growth delay Single median maxillary incisor Panhypopituitarism Talipes equinovarus Agenesis of corpus callosum Intellectual disability, profound Non-midline cleft lip Overbite Gastroesophageal reflux Neonatal hypotonia Poor suck Bulbar palsy Upper airway obstruction Central apnea Long penis Temporomandibular joint ankylosis Hydrocephalus Macrotia Broad face Thin upper lip vermilion Smooth philtrum Highly arched eyebrow Prominent nose Hypotelorism Omphalocele Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Failure to thrive Mandibular prognathia Lacrimation abnormality Corneal opacity Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia Edema Hypogonadism Micropenis Muscular dystrophy Skin tags Synophrys Delayed puberty Hypoplasia of the maxilla Broad nasal tip Primary amenorrhea Hypogonadotrophic hypogonadism Scrotal hypoplasia Anosmia Limb-girdle muscular dystrophy Anophthalmia Preauricular pit Hypoplastic labia majora Hyposmia Absent nipple Taurodontia Rigidity Abnormality of the genital system Dry skin Thin vermilion border Bulbous nose High, narrow palate Delayed eruption of teeth Triangular face Ectodermal dysplasia Underdeveloped nasal alae Abnormality of the skin Microdontia Hypertrichosis Depressed nasal ridge Abnormality of the face Inverted nipples Sparse and thin eyebrow Low anterior hairline Generalized hirsutism Cutis laxa Hyperextensible skin Dermal atrophy Redundant skin Sparse eyebrow Ectropion Aplasia/Hypoplasia of the eyebrow Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Abnormal parotid gland morphology



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