Cleft palate, and Joint hypermobility
Diseases related with Cleft palate and Joint hypermobility
In the following list you will find some of the most common rare diseases related to Cleft palate and Joint hypermobility that can help you solving undiagnosed cases.
Top matches:
Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms
Related symptoms:
- Short stature
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Cataract
SOURCES:
ORPHANET
MENDELIAN
More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME
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Other less relevant matches:
Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type
Related symptoms:
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Cataract
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about STICKLER SYNDROME TYPE 3
Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies
Related symptoms:
- Scoliosis
- Cleft palate
- Wide nasal bridge
- Fever
- Abnormality of the dentition
SOURCES:
ORPHANET
MENDELIAN
More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME
Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
Related symptoms:
- Hearing impairment
- Scoliosis
- Sensorineural hearing impairment
- Cleft palate
- High palate
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about BRITTLE CORNEA SYNDROME
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome
Related symptoms:
- Short stature
- Scoliosis
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about CRANIOLENTICULOSUTURAL DYSPLASIA
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he
Related symptoms:
- Generalized hypotonia
- Hearing impairment
- Scoliosis
- Sensorineural hearing impairment
- Muscle weakness
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE
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
Top 5 symptoms//phenotypes associated to Cleft palate and Joint hypermobility
Symptoms // Phenotype |
% cases |
Myopia |
Common - Between 50% and 80% cases
|
Sensorineural hearing impairment |
Common - Between 50% and 80% cases
|
Cataract |
Uncommon - Between 30% and 50% cases
|
Joint hyperflexibility |
Uncommon - Between 30% and 50% cases
|
Hearing impairment |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Cleft palate and Joint hypermobility. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Bifid uvula
Malar flattening
Retinal detachment
Scoliosis
Short stature
Osteopenia
Pes planus
Camptodactyly
Talipes equinovarus
Delayed speech and language development
Osteoporosis
Generalized hypotonia
Intellectual disability
Arachnodactyly
Anteverted nares
Midface retrusion
Pectus excavatum
Cryptorchidism
Delayed eruption of teeth
Recurrent fractures
Gait disturbance
High palate
Abnormality of the dentition
Abnormal facial shape
Hypertelorism
Mitral valve prolapse
Micrognathia
Abnormality of epiphysis morphology
Long philtrum
Rare Symptoms - Less than 30% cases
Inguinal hernia
Wide nasal bridge
Osteoarthritis
Depressed nasal bridge
Pectus carinatum
Hernia
Hypoplasia of the maxilla
Platyspondyly
Long fingers
Increased susceptibility to fractures
Hyperextensible skin
Cutis laxa
Arthralgia
Blue sclerae
Umbilical hernia
High myopia
Abnormal vitreous humor morphology
Prominent forehead
Bruising susceptibility
Pulmonic stenosis
Dental crowding
Disproportionate tall stature
Synophrys
Skeletal dysplasia
Conductive hearing impairment
Narrow mouth
Visual loss
Microcornea
Glaucoma
Soft skin
Thin vermilion border
Thin upper lip vermilion
Muscular hypotonia
Wide intermamillary distance
Smooth philtrum
Flat face
Patent ductus arteriosus
Hyperpigmentation of the skin
Prominent nasal bridge
Kyphoscoliosis
Esotropia
Posterior wedging of vertebral bodies
Motor delay
Atrophic scars
Narrow iliac wings
Punctate cataract
Forehead hyperpigmentation
Follicular hyperkeratosis
Difficulty climbing stairs
Hypoplasia of teeth
Cleft soft palate
Flexion contracture
Muscle weakness
Congenital muscular dystrophy
Epicanthus
Elevated serum creatine phosphokinase
High iliac wings
Sloping forehead
Waddling gait
Abnormality of the foot
Muscular dystrophy
Severe muscular hypotonia
Scarring
Hyperkeratosis
Poor head control
Hypotelorism
Keloids
Sutural cataract
Easy fatigability
Myopathy
Poor suck
Cardiomyopathy
Posterior Y-sutural cataract
Skeletal muscle atrophy
Bladder diverticulum
Hypercalciuria
High-frequency sensorineural hearing impairment
Broad-based gait
Intellectual disability, moderate
Abnormality of the pinna
Short philtrum
Facial asymmetry
Abnormality of movement
Unsteady gait
Bulbous nose
High, narrow palate
Postural instability
Generalized myoclonic seizures
Webbed neck
Intellectual disability, profound
Thick lower lip vermilion
Tall stature
Mandibular prognathia
Narrow face
Spontaneous abortion
Nasal speech
Sparse eyebrow
Decreased muscle mass
Slender finger
Epileptic spasms
Slender build
Hyperextensibility of the finger joints
Small earlobe
Long hallux
Narrow palm
Focal motor seizures
Long palm
Difficulty walking
Brachycephaly
Arterial rupture
Decreased skull ossification
Abnormal eye morphology
Aortic rupture
Strabismus
Anemia
Downslanted palpebral fissures
Short neck
Clinodactyly
Clinodactyly of the 5th finger
Hydronephrosis
Broad forehead
Talipes
Renal dysplasia
Finger clinodactyly
Nephrocalcinosis
Patent foramen ovale
Myoclonus
Mixed hearing impairment
Severe sensorineural hearing impairment
Large forehead
Elliptocytosis
Broad distal phalanx of finger
Mild conductive hearing impairment
Cleft hard palate
Seizures
Global developmental delay
Ptosis
Low-set ears
Cognitive impairment
Dysarthria
Absent speech
Delayed closure of the anterior fontanelle
Flat cornea
Capillary hemangioma
Spondyloepiphyseal dysplasia
Absence of secondary sex characteristics
Breast hypoplasia
Decreased testosterone in males
Eunuchoid habitus
Female hypogonadism
Hypoplasia of the ovary
Non-obstructive azoospermia
Absence of pubertal development
Abnormality of body height
Increased female libido
Retinopathy
Arthropathy
Male hypogonadism
Glossoptosis
Exostoses
Pierre-Robin sequence
Abnormal metacarpal morphology
Fever
Dilatation
Recurrent infections
Recurrent respiratory infections
Deeply set eye
Craniosynostosis
Skin rash
Decreased serum testosterone level
Generalized joint laxity
Papule
Micropenis
Short nose
Proptosis
Abnormality of vertebral epiphysis morphology
Genu valgum
Astigmatism
Amblyopia
Epiphyseal dysplasia
Irregular vertebral endplates
Vitreoretinopathy
Depressivity
Delayed skeletal maturation
Anxiety
Secondary amenorrhea
Delayed puberty
Decreased testicular size
Primary amenorrhea
Gynecomastia
Hypogonadotrophic hypogonadism
Azoospermia
Abnormality of the voice
Congenital sensorineural hearing impairment
Impotence
Hypoplasia of the uterus
Sparse body hair
Cough
Pruritus
Premature loss of teeth
Sparse hair
Shoulder dislocation
Keratoglobus
Decreased corneal thickness
Abnormality of hair pigmentation
Failure to thrive
Macrocephaly
Optic atrophy
Frontal bossing
Gastroesophageal reflux
Joint laxity
Wide mouth
Narrow chest
Corneal erosion
Carious teeth
Abnormality of skin pigmentation
Wide nose
Prominent nose
Microdontia
Large fontanelles
Wide anterior fontanel
Hemangioma
Coarse hair
Prominent supraorbital ridges
Brittle hair
Corneal scarring
Sclerocornea
Lymphoma
Atelectasis
Eczema
Abnormality of the face
Skin ulcer
Abnormality of the hair
Eosinophilia
Chronic otitis media
Osteomyelitis
Skin vesicle
Cellulitis
Gingivitis
Dystrophic fingernails
Increased IgE level
Megalocornea
Paronychia
Generalized abnormality of skin
Edema
Neonatal hypotonia
Myalgia
Hip dislocation
Hip dysplasia
Congenital hip dislocation
Corneal dystrophy
Hallux valgus
Keratoconus
Asymmetry of the ears
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