Cleft palate, and Hypodontia

Diseases related with Cleft palate and Hypodontia

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


Top matches:

Medium match VAN DER WOUDE SYNDROME


Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.

VAN DER WOUDE SYNDROME Is also known as cleft lip/palate with mucous cysts of lower lip|lip-pit syndrome|vws

Related symptoms:

  • Cleft palate
  • Cleft upper lip
  • Hypodontia
  • Abnormal salivary gland morphology
  • Lip pit


SOURCES: ORPHANET MENDELIAN

More info about VAN DER WOUDE SYNDROME

Medium match TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME


Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Medium match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

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Other less relevant matches:

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 ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Medium match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Medium match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Medium match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Medium match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Medium match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

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

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Cleft upper lip Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
Oral cleft Uncommon - Between 30% and 50% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Micrognathia Ectodermal dysplasia Wide nasal bridge Sparse hair Protruding ear Hypohidrosis Highly arched eyebrow Bilateral cleft lip and palate Abnormality of the dentition Dystrophic toenail Seizures Carious teeth Short stature Downslanted palpebral fissures Neurological speech impairment Toe syndactyly Sparse and thin eyebrow Abnormality of dental enamel Sparse eyelashes Scrotal hypoplasia Nail dysplasia Bifid uvula Bilateral cleft lip Hypogonadism Sparse lateral eyebrow Synophrys Global developmental delay Microdontia Pili torti Dystrophic fingernails

Rare Symptoms - Less than 30% cases


High palate Abnormality of the voice Ambiguous genitalia Recurrent otitis media Thin upper lip vermilion Hyperlordosis Hypospadias Malar flattening Midface retrusion Conical tooth Alopecia Recurrent respiratory infections Macrotia EEG abnormality Scoliosis Ventricular septal defect Abnormality of the ear Anodontia Abnormality of the ureter Cutaneous syndactyly of toes Hypoplastic labia majora Abnormality of the philtrum Cutaneous finger syndactyly Abnormality of dental morphology Cryptorchidism Otitis media Palmoplantar hyperkeratosis Progressive hypotrichosis Non-midline cleft lip Bilateral single transverse palmar creases Pterygium Wide intermamillary distance Ankyloblepharon Hypotrichosis Clinodactyly Brachydactyly Sensorineural hearing impairment Anal atresia Hypertelorism Ectrodactyly Conductive hearing impairment High forehead Split hand Small nail Abnormal facial shape Choanal atresia Hearing impairment Lower lip pit Posteriorly rotated ears Lip pit Agenesis of corpus callosum Frontal bossing Epicanthus Abnormal salivary gland morphology Anteverted nares Dysphagia Cutaneous syndactyly Respiratory insufficiency Abnormality of cardiovascular system morphology Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Pneumonia Prominent forehead Gastroesophageal reflux Telecanthus Pectus carinatum Smooth philtrum Hernia Submucous cleft soft palate Low-set ears Anhidrotic ectodermal dysplasia Widely spaced teeth Coarse hair Supernumerary nipple Submucous cleft hard palate Generalized hyperpigmentation Narrow nose Thick nail Dry hair Cystic renal dysplasia Hypohidrotic ectodermal dysplasia Decreased number of sweat glands Hyperconvex nail Velopharyngeal insufficiency Trichodysplasia Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Congenital diaphragmatic hernia Small, conical teeth Progressive alopecia Intestinal malrotation Double outlet right ventricle Recurrent urinary tract infections Long palpebral fissure Pulmonic stenosis Hirsutism Broad nasal tip Dental malocclusion Coarctation of aorta Decreased body weight Long eyelashes Cupped ear Atrioventricular canal defect Natal tooth Severe short stature Central hypotonia Neonatal hypoglycemia Short columella Depressed nasal tip Short 5th finger Generalized joint laxity Long hallux Prominent fingertip pads Abnormality of the breast Feeding difficulties in infancy Behavioral abnormality Large fontanelles Chylothorax Aspiration Increased number of teeth Prominent metopic ridge Aspiration pneumonia Hydrocele testis Widow's peak Pulmonary artery atresia Volvulus Abnormality of the pharynx Right aortic arch Atrial septal defect Abnormality of the nasopharynx Intestinal lymphangiectasia Bladder exstrophy Recurrent aspiration pneumonia Exstrophy Osteoma Posterior pharyngeal cleft Generalized hypotonia Microcephaly Strabismus Renal dysplasia Narrow mouth Thin skin Hypoplastic nipples Abnormality of the kidney Blindness Neoplasm Nail dystrophy Lacrimal duct atresia Triangular face Split foot Sparse scalp hair Gonadal dysgenesis Upslanted palpebral fissure Hallux valgus Abnormal dermatoglyphics Hypergonadotropic hypogonadism Joint contracture of the hand Brittle hair Aplasia/Hypoplasia of the eyebrow Primary amenorrhea Amenorrhea Camptodactyly Hyperhidrosis Hypothyroidism Talon cusp Abnormal hair quantity Abnormality of vision Reduced number of teeth Ectropion Overfolded helix Vertebral fusion Opacification of the corneal stroma Abnormal eyelid morphology Myelomeningocele High anterior hairline Distichiasis Abnormality of the eye Unilateral cleft lip Epidermoid cyst Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Multiple rows of eyelashes Flat face Hypoplasia of the zygomatic bone Hitchhiker thumb Fine hair Intercrural pterygium Abnormality of the nail Generalized hirsutism Cerebral palsy Bifid scrotum Ankyloglossia Popliteal pterygium Nonketotic hyperglycinemia Fibrous syngnathia Ptosis Abnormality of the ribs Depressed nasal bridge Growth delay Clinodactyly of the 5th finger Oligodontia Pulmonary hypoplasia Delayed eruption of teeth Palmoplantar keratoderma Hypoplasia of the maxilla Underdeveloped nasal alae Abnormality of the genital system Optic atrophy Diastema Anhidrosis Short hallux Carpal synostosis Abnormality of digit Tarsal synostosis Radioulnar synostosis Abnormality of the hand Deep philtrum Short metatarsal Scaling skin Anteverted ears Specific learning disability Blue sclerae Bilateral sensorineural hearing impairment Flexion contracture Feeding difficulties Respiratory distress Difficulty walking Short metacarpal Joint stiffness Falls Eversion of lateral third of lower eyelids



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