Cleft palate, and Mandibular prognathia
Diseases related with Cleft palate and Mandibular prognathia
In the following list you will find some of the most common rare diseases related to Cleft palate and Mandibular prognathia that can help you solving undiagnosed cases.
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Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1
Related symptoms:
- Hearing impairment
- Scoliosis
- Strabismus
- Cleft palate
- Ptosis
SOURCES:
ORPHANET
MENDELIAN
More info about WAARDENBURG SYNDROME TYPE 1
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
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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
X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.
X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE
The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.
CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
SOURCES:
OMIM
MENDELIAN
More info about CLEIDOCRANIAL DYSPLASIA; CCD
Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).
WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies
Related symptoms:
- Intellectual disability
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Hypertelorism
SOURCES:
OMIM
MENDELIAN
More info about WAARDENBURG SYNDROME, TYPE 3; WS3
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.
CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis
Related symptoms:
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Micrognathia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CLEIDOCRANIAL DYSPLASIA
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.
APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1
Related symptoms:
- Intellectual disability
- Hypertelorism
- Strabismus
- Sensorineural hearing impairment
- Cleft palate
SOURCES:
ORPHANET
MENDELIAN
More info about APERT SYNDROME
Top 5 symptoms//phenotypes associated to Cleft palate and Mandibular prognathia
Symptoms // Phenotype |
% cases |
Hypertelorism |
Very Common - Between 80% and 100% cases
|
Hearing impairment |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Underdeveloped nasal alae |
Uncommon - Between 30% and 50% cases
|
Frontal bossing |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Cleft palate and Mandibular prognathia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Midface retrusion
High, narrow palate
Delayed eruption of teeth
Malar flattening
Micrognathia
Short stature
Depressed nasal bridge
Wide nasal bridge
Synophrys
Brachycephaly
Abnormal facial shape
Large fontanelles
Sensorineural hearing impairment
Telecanthus
Prominent nasal bridge
Genu valgum
Hypoplasia of the maxilla
Abnormality of the pinna
Bifid uvula
Proptosis
Scoliosis
Strabismus
Abnormality of the dentition
Abnormality of the skeletal system
Sprengel anomaly
Brachydactyly
Ptosis
Facial asymmetry
Conductive hearing impairment
Rare Symptoms - Less than 30% cases
Syndactyly
Hydrocephalus
Convex nasal ridge
Global developmental delay
Growth delay
Failure to thrive
Talipes equinovarus
Low-set ears
Narrow chest
Anteverted nares
Cryptorchidism
Skeletal dysplasia
Respiratory distress
Microcephaly
Recurrent fractures
Abdominal distention
Intellectual disability, moderate
Osteoporosis
Generalized hypotonia
Increased number of teeth
Broad forehead
Sparse eyebrow
Hypoplastic scapulae
Abnormality of the face
Dental malocclusion
Coxa vara
Bulbous nose
Wormian bones
Short clavicles
Narrow mouth
White forelock
Heterochromia iridis
White hair
Premature graying of hair
Hypopigmented skin patches
Short philtrum
Thin vermilion border
Atrial septal defect
Prominent nose
Aganglionic megacolon
Blepharophimosis
Choanal atresia
Ventricular septal defect
Feeding difficulties in infancy
Abnormality of the eye
Abnormality of vision
Short nose
Cleft lip
Abnormality of cardiovascular system morphology
Congenital sensorineural hearing impairment
Cleft upper lip
2-3 toe syndactyly
Abnormal palate morphology
Hypopigmentation of the skin
Abnormality of skin pigmentation
Anorexia
Asymmetry of the thorax
Joint contracture of the hand
Paraplegia
Scapular winging
Thick vermilion border
Premature birth
Abdominal wall defect
Dacryocystitis
Carious teeth
Hemihypertrophy
Recurrent respiratory infections
Clinodactyly of the 5th finger
Visceromegaly
Macrocephaly
Poliosis
Partial albinism
Albinism
Narrow naris
Bronchomalacia
Atelectasis
Arthrogryposis multiplex congenita
Carpal synostosis
Vitiligo
Cutaneous finger syndactyly
Blue irides
Flexion contracture
Spastic paraplegia
Auricular pit
Parietal foramina
Delayed eruption of permanent teeth
Hemifacial hypertrophy
Posterior helix pit
Cervical ribs
Aplastic clavicle
Short middle phalanx of the 5th finger
Absent frontal sinuses
Spondylolisthesis
Osteolytic defects of the phalanges of the hand
Hypoplastic iliac wing
Abnormality of the clavicle
Cone-shaped epiphyses of the phalanges of the hand
Syringomyelia
Delayed eruption of primary teeth
Parietal bossing
Camptodactyly of finger
Long second metacarpal
Clinodactyly
Vomiting
Intellectual disability, severe
Sloping forehead
Anterior creases of earlobe
Abnormal facility in opposing the shoulders
Persistent open anterior fontanelle
Hypoplastic frontal sinuses
Wide pubic symphysis
Delayed pubic bone ossification
Absent paranasal sinuses
Short middle phalanx of the 2nd finger
Large foramen magnum
Spondylolysis
Moderately short stature
Tapered finger
Sleep apnea
Abnormality of the ribs
Ovarian neoplasm
Brachyturricephaly
Cloverleaf skull
Ectopic anus
Corneal erosion
Esophageal atresia
Aplasia/Hypoplasia of the thumb
Absent septum pellucidum
Cervical C5/C6 vertebrae fusion
Vertebral segmentation defect
Arnold-Chiari malformation
Narrow palate
Broad thumb
Flat face
Neonatal hypoglycemia
Enlarged kidney
Morphological abnormality of the semicircular canal
Acrobrachycephaly
Micromelia
Patent ductus arteriosus
Macroglossia
Hematuria
Abnormality of the kidney
Deeply set eye
Jaundice
Umbilical hernia
Polyhydramnios
Overgrowth
Epicanthus
Cardiomegaly
Abnormality of the outer ear
Splenomegaly
Nephroblastoma
Large for gestational age
Hepatomegaly
Abnormality of the ureter
Nevus flammeus
Toe syndactyly
Abnormality of epiphysis morphology
Open bite
Dystrophic toenail
Mild global developmental delay
Decreased skull ossification
Down-sloping shoulders
Hypoplasia of the zygomatic bone
Hearing abnormality
Glossoptosis
Chronic otitis media
Abnormality of the thumb
Abnormality of pelvic girdle bone morphology
Abnormality of the metacarpal bones
Full cheeks
Spina bifida occulta
Abnormality of dental enamel
Hemivertebrae
Sinusitis
Dystrophic fingernails
Dimple chin
Finger syndactyly
Hypertension
Agenesis of corpus callosum
Ventriculomegaly
Capillary hemangioma
Downslanted palpebral fissures
Abnormal eyebrow morphology
Diastasis recti
Optic atrophy
Visual impairment
Abnormal sacrum morphology
Neck muscle hypoplasia
Cervical segmentation defect
Short face
Shoulder muscle hypoplasia
Hypoplastic inferior ilia
Rib segmentation abnormalities
Cervical C2/C3 vertebral fusion
Respiratory insufficiency
Intellectual disability, profound
Thickened calvaria
Craniofacial dysostosis
Rigidity
Hypospadias
Short neck
Calcaneonavicular fusion
Hallux varus
Broad metatarsal
Anterior plagiocephaly
Microtia
Abnormality of fibula morphology
Symphalangism affecting the phalanges of the hand
Broad hallux phalanx
Preaxial foot polydactyly
Turricephaly
Split foot
Shallow orbits
Wide mouth
Dry skin
Broad hallux
Low anterior hairline
Redundant skin
Atresia of the external auditory canal
Dermal atrophy
Hyperextensible skin
Cutis laxa
Generalized hirsutism
Sparse and thin eyebrow
Hirsutism
Abnormality of the genital system
Depressed nasal ridge
Hypertrichosis
Microdontia
Abnormality of the skin
Ectodermal dysplasia
Triangular face
Underdeveloped supraorbital ridges
Short metatarsal
Cupped ear
White eyebrow
Abnormal cardiac septum morphology
Coloboma
Protruding ear
Inguinal hernia
Hernia
Abnormality of metabolism/homeostasis
White eyelashes
Renal hypoplasia
Lacrimation abnormality
Meningocele
Hypopigmentation of hair
Tented upper lip vermilion
Spina bifida
Abnormality of the hair
Thick eyebrow
Anal atresia
Short palpebral fissure
Acanthosis nigricans
Median cleft palate
Epidermal acanthosis
Craniosynostosis
Headache
Bilateral choanal atresia/stenosis
Lower eyelid coloboma
Bilateral choanal atresia
Unilateral cleft lip
Renal dysplasia
Secundum atrial septal defect
Hypomimic face
Eyelid coloboma
External ear malformation
Mixed hearing impairment
Narrow palpebral fissure
Preauricular skin tag
Ectropion
Aplasia/Hypoplasia of the eyebrow
Short femoral neck
Narrow face
Slender finger
Long fingers
Disproportionate tall stature
Decreased muscle mass
Nasal speech
Spontaneous abortion
Hyperpigmentation of the skin
Slender build
Dental crowding
Tall stature
Broad-based gait
Thick lower lip vermilion
High myopia
Wide intermamillary distance
Webbed neck
Epileptic spasms
Hyperextensibility of the finger joints
Postural instability
Recurrent otitis media
Neonatal respiratory distress
Cone-shaped epiphysis
Increased susceptibility to fractures
Short ribs
Increased bone mineral density
Hypoplasia of dental enamel
Otitis media
Small earlobe
Pes planus
Kyphosis
Asymmetry of the ears
Long palm
Focal motor seizures
Narrow palm
Long hallux
Generalized myoclonic seizures
Unsteady gait
Long nose
Sparse or absent eyelashes
Frontal hirsutism
Mild hearing impairment
Abnormality of female external genitalia
Generalized hypertrichosis
Broad alveolar ridges
Breast aplasia
Gingival fibromatosis
Abnormality of male external genitalia
Absent nipple
Skin tags
Taurodontia
Inverted nipples
Shawl scrotum
Hypoplastic nipples
Aplasia/Hypoplasia of the skin
Ablepharon
Seizures
Arachnodactyly
Myoclonus
Smooth philtrum
Abnormality of movement
Pectus carinatum
Camptodactyly
Difficulty walking
Kyphoscoliosis
Pectus excavatum
Muscular hypotonia
Absent speech
Gait disturbance
Myopia
Dysarthria
Delayed speech and language development
High palate
Cognitive impairment
Congenital megaureter
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