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:

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match AUTOSOMAL RECESSIVE STICKLER SYNDROME


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

Low match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

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Other less relevant matches:

Low match STICKLER SYNDROME TYPE 3


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

Low match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


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

Low match BRITTLE CORNEA 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

Low match CRANIOLENTICULOSUTURAL DYSPLASIA


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

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


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

Low match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Low match X-LINKED INTELLECTUAL DISABILITY, SNYDER 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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