Cleft palate, and Joint hyperflexibility

Diseases related with Cleft palate and Joint hyperflexibility

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE


Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Medium match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Joint hyperflexibility

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pes planus Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of epiphysis morphology Abnormality of the dentition Hypoplasia of the maxilla Macrocephaly Muscular hypotonia Myopia Global developmental delay Joint laxity Hip dislocation Sensorineural hearing impairment Prominent forehead Delayed eruption of teeth High palate Pectus excavatum Inguinal hernia Arachnodactyly Camptodactyly of finger Clinodactyly of the 5th finger Hyperextensible skin Hypertelorism Atrial septal defect Low-set ears Frontal bossing Anteverted nares Dilatation Cryptorchidism Micrognathia Retinal detachment Long philtrum Cataract Wide nasal bridge Skeletal dysplasia Platyspondyly Short nose

Rare Symptoms - Less than 30% cases


Thin upper lip vermilion Gastroesophageal reflux Umbilical hernia Midface retrusion Aortic aneurysm Visual loss Genu valgum Osteoporosis Pulmonic stenosis Long nose Hip dysplasia Mitral valve prolapse Ventricular septal defect Osteoarthritis Congenital hip dislocation Generalized hypotonia Short palpebral fissure Aortic root aneurysm Specific learning disability Keratoconus Megalocornea Soft skin Abnormal facial shape Blepharophimosis Failure to thrive Strabismus Cognitive impairment Keratoglobus Craniosynostosis Osteopenia Irregular vertebral endplates Recurrent fractures Seizures Prominent nasal bridge Recurrent respiratory infections Prominent nose Long face Bifid uvula Wide nose Talipes Growth delay Attention deficit hyperactivity disorder Behavioral abnormality Congestive heart failure Short neck Epiphyseal dysplasia Feeding difficulties Intellectual disability, mild Kyphoscoliosis Low frustration tolerance Elevated serum creatine phosphokinase Velopharyngeal insufficiency Kyphosis Talipes equinovarus Depressed nasal bridge Muscle weakness Abnormally folded helix Cat cry Oppositional defiant disorder Abnormal carotid artery morphology Long palm Esophagitis Ascending tubular aorta aneurysm Aggressive behavior Broad thumb Open mouth Psychosis Neurological speech impairment Short philtrum Protruding ear High forehead Anorexia Autism Brachycephaly Hyperactivity Agenesis of corpus callosum Intrauterine growth retardation Brachydactyly Dental crowding Hallucinations Impaired social interactions Emotional lability Abnormality of the rib cage Macroorchidism Slender finger Broad nasal tip Narrow nasal bridge Disproportionate tall stature Obsessive-compulsive behavior Narrow face Abnormality of the voice Nasal speech Deep philtrum Schizophrenia Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Short chin Micromelia Generalized joint laxity Nail dysplasia Long distal phalanx of finger Respiratory failure Respiratory distress Fatigue Hypertension Delayed phalangeal epiphyseal ossification Long proximal phalanx of finger Slender distal phalanx of finger Macrotia Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Caudal interpedicular narrowing Arterial stenosis Slender proximal phalanx of finger Abnormal calcification of the carpal bones Dyspnea Hypertrophic cardiomyopathy Delayed patellar ossification Telangiectasia of the skin Aortic dissection Myocarditis Cardiorespiratory arrest Hiatus hernia Pulmonary artery stenosis Prematurely aged appearance Rocker bottom foot Dilated cardiomyopathy Pyloric stenosis Redundant skin Coxa vara Coxa valga Cardiac arrest Thin skin Myocardial infarction Streaky metaphyseal sclerosis Narrow femoral neck Joint dislocation Tracheomalacia Small epiphyses Generalized osteoporosis Spondyloepimetaphyseal dysplasia Upper airway obstruction Delayed epiphyseal ossification Thoracolumbar scoliosis Thoracic scoliosis Hypoplasia of the capital femoral epiphysis Dislocated radial head Abnormal joint morphology Flared metaphysis Metaphyseal irregularity Stridor Genu varum Short long bone Irregular epiphyses Carpal bone hypoplasia Slender metacarpals Abnormal bone ossification Posterior scalloping of vertebral bodies Abnormality of the patella Large joint dislocations Narrow vertebral interpedicular distance Laryngotracheomalacia Femoral hernia Laryngeal stenosis Median cleft lip and palate Abnormal sacrum morphology Inspiratory stridor Spinal dysraphism Flat capital femoral epiphysis Thoracolumbar kyphosis Enlarged thorax Broad distal phalanx of finger Flexion contracture Prominent occiput Abnormal vertebral segmentation and fusion Corneal dystrophy Edema Hernia Glaucoma Conductive hearing impairment Neonatal hypotonia Myalgia Camptodactyly Joint hypermobility Bruising susceptibility Microcornea High myopia Blue sclerae Cutis laxa Increased susceptibility to fractures Hearing impairment Hallux valgus Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Decreased corneal thickness Abnormality of hair pigmentation Delayed speech and language development Optic atrophy Wide mouth Sparse hair Narrow chest Gait disturbance Generalized abnormality of skin Smooth philtrum Papule Proptosis Arthralgia Abnormal vitreous humor morphology Abnormality of vertebral epiphysis morphology Astigmatism Flat face Amblyopia Vitreoretinopathy Fever Recurrent infections Deeply set eye Skin rash Cough Pruritus Paronychia Lymphoma Eczema Abnormality of the face Skin ulcer Abnormality of the hair Eosinophilia Chronic otitis media Osteomyelitis Skin vesicle Cellulitis Gingivitis Dystrophic fingernails Atelectasis Increased IgE level Carious teeth Abnormality of skin pigmentation Abnormality of the cervical spine Broad forehead Abnormality of the antihelix Abnormal nasolacrimal system morphology Thyroid hypoplasia Ectopic thyroid Thyroid agenesis Thyroid dysgenesis Neoplasm of the tongue Abnormality of the cheek Ptosis Epicanthus Downslanted palpebral fissures Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Finger syndactyly Atrioventricular canal defect Cleft upper lip Oral cleft Short palm Small hand Everted lower lip vermilion Short foot Single transverse palmar crease Round face Broad palm Shawl scrotum External ear malformation Broad foot Genu recurvatum High anterior hairline Submucous cleft hard palate Bilateral single transverse palmar creases Thin vermilion border Hypoplasia of teeth Esotropia Microdontia Large fontanelles Hyperpigmentation of the skin Wide anterior fontanel Hemangioma Coarse hair Prominent supraorbital ridges Brittle hair Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Narrow iliac wings Sloping forehead High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Microcephaly Patent ductus arteriosus Severe short stature Posteriorly rotated ears Hypothyroidism Polyhydramnios Retrognathia Bulbous nose Abnormality of the zygomatic bone



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