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:
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
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
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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
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
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
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
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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