Cleft palate, and Mitral valve prolapse

Diseases related with Cleft palate and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Cleft palate and Mitral valve prolapse 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 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

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

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Other less relevant matches:

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Medium match 6Q25 MICRODELETION SYNDROME


6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Medium match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Medium match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Medium match FRONTOMETAPHYSEAL DYSPLASIA


Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

FRONTOMETAPHYSEAL DYSPLASIA Is also known as fmd

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Cleft palate and Mitral valve prolapse

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Arachnodactyly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pes planus Sensorineural hearing impairment Intellectual disability Downslanted palpebral fissures Pectus excavatum Dilatation Patent ductus arteriosus Abnormal facial shape Mitral regurgitation Myopia Osteoporosis Hernia Short stature Growth delay Atrial septal defect Bifid uvula Joint hypermobility Inguinal hernia Abnormality of the skeletal system Hearing impairment Osteoarthritis Spondylolisthesis Umbilical hernia Neonatal hypotonia Malar flattening Arterial tortuosity Bruising susceptibility Aortic dissection Smooth philtrum Blue sclerae Global developmental delay Aortic regurgitation Soft skin Ventricular hypertrophy Joint laxity Retinal detachment Dolichocephaly Camptodactyly Pectus carinatum Anteverted nares Proptosis Short nose Intrauterine growth retardation Long philtrum Ventricular septal defect Retrognathia

Rare Symptoms - Less than 30% cases


Brachydactyly Flexion contracture Microcephaly Cleft soft palate Abnormal cardiac septum morphology Migraine Dental malocclusion Exotropia Patent foramen ovale Hirsutism Ptosis Brachycephaly Bicuspid aortic valve Seizures Aortic aneurysm Disproportionate tall stature Abnormality of the sternum Talipes equinovarus Striae distensae Ectopia lentis Dilatation of the cerebral artery Decreased muscle mass Thoracic aortic aneurysm Ascending aortic dissection Dural ectasia Failure to thrive Protrusio acetabuli Overgrowth Joint contracture of the hand Frontal bossing Generalized hypotonia Conductive hearing impairment Small hand Pulmonic stenosis Recurrent fractures Full cheeks Abnormal vitreous humor morphology Camptodactyly of finger Midface retrusion Abnormality of epiphysis morphology Glaucoma Pain Joint hyperflexibility Thin upper lip vermilion Arthralgia Skeletal dysplasia Long fingers Visual loss Hydrocephalus Respiratory distress Ventriculomegaly Muscular hypotonia Wide nasal bridge Cataract Craniosynostosis Chest pain Thick eyebrow Postaxial polydactyly Broad forehead Esotropia Downturned corners of mouth Highly arched eyebrow Short foot Poor speech Febrile seizures Polydactyly Wide intermamillary distance Narrow forehead Pes cavus Decreased body weight Dental crowding Recurrent respiratory infections Narrow palate EEG abnormality Clinodactyly Absent speech Short neck Feeding difficulties Cognitive impairment Spasticity Generalized arterial tortuosity Bicuspid pulmonary valve Spontaneous pneumothorax Gastroesophageal reflux Descending thoracic aorta aneurysm Pulmonary artery aneurysm Arnold-Chiari malformation Absent distal phalanges Deeply set eye Hypertrophic cardiomyopathy Mild myopia Respiratory tract infection Sparse hair Coloboma Ascending tubular aorta aneurysm Prominent nasal bridge High anterior hairline Synophrys Myopathic facies Dermal translucency Short chin Long eyelashes Long foot Abnormal diaphysis morphology Selective tooth agenesis Hypoplasia of the musculature Craniofacial hyperostosis Fused cervical vertebrae Cor pulmonale Tracheal stenosis Wrist flexion contracture Ankle contracture Esophageal atresia Synostosis of carpal bones Wheezing Ulnar deviation of finger Metaphyseal dysplasia Severe hearing impairment Persistence of primary teeth Urethral stenosis Hydroureter Antegonial notching of mandible Coat hanger sign of ribs Partial fusion of tarsals Increased density of long bone diaphyses Partial fusion of carpals Anteriorly placed odontoid process Irregular metacarpals Posterior vertebral hypoplasia Broad phalanges of the hand Subglottic stenosis Long metacarpals Absent/hypoplastic paranasal sinuses Short distal phalanx of hallux Large foramen magnum Short distal phalanx of the thumb Ureteral stenosis Cranial hyperostosis Atrioventricular canal defect Hyperostosis Low anterior hairline Semilobar holoprosencephaly Hydronephrosis Coarse facial features Skeletal muscle atrophy Cryptorchidism Skull asymmetry Curly eyelashes Limited elbow movement Genu valgum Hemihypertrophy Enlarged cisterna magna Prominent metopic ridge Cutis marmorata Proximal placement of thumb Widely spaced teeth Holoprosencephaly Joint stiffness Wide nose Tracheoesophageal fistula Accelerated skeletal maturation Abnormality of dental morphology Stridor Elbow dislocation Prominent supraorbital ridges Reduced number of teeth Abnormality of the genitourinary system Scapular winging Knee flexion contracture Delayed eruption of teeth Coxa valga Pointed chin Elbow flexion contracture Increased bone mineral density Bowing of the long bones Abnormality of the metaphysis Abnormal form of the vertebral bodies Syndactyly Celiac disease Abnormality of nervous system morphology Abdominal aortic aneurysm Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Headache Atrial fibrillation Left ventricular hypertrophy Back pain Slender finger Abnormal joint morphology Subarachnoid hemorrhage Low back pain Osteochondritis Dissecans Hip osteoarthritis Intervertebral disc degeneration Shoulder dislocation Uterine prolapse Knee osteoarthritis Neoplasm Anemia Fatigue Arrhythmia Autism Cleft lip Pallor Autistic behavior Delayed puberty Cleft upper lip Neutropenia Flat cornea Corneal scarring Thick lower lip vermilion Abnormality of the dentition Platyspondyly Hypoplasia of the maxilla Abnormality of vertebral epiphysis morphology Depressed nasal bridge Retinopathy Spondyloepiphyseal dysplasia Arthropathy Glossoptosis Exostoses Pierre-Robin sequence Abnormal metacarpal morphology Gait disturbance Edema Myalgia Corneal erosion Hip dislocation Microcornea Hip dysplasia High myopia Congenital hip dislocation Cutis laxa Corneal dystrophy Hyperextensible skin Increased susceptibility to fractures Hallux valgus Keratoconus Megalocornea Sclerocornea Tetralogy of Fallot Depressed nasal ridge Secundum atrial septal defect Facial asymmetry Increased arm span Low-set ears Epicanthus Intellectual disability, mild Abnormality of cardiovascular system morphology Abnormal heart morphology Clinodactyly of the 5th finger Agenesis of corpus callosum Upslanted palpebral fissure Low-set, posteriorly rotated ears Abnormality of the eye Abnormality of the pinna Wide mouth Triangular face Bilateral coxa valga Interphalangeal joint contracture of finger Short palpebral fissure Plagiocephaly Abnormality of vision Redundant skin Rocker bottom foot Tricuspid regurgitation Mild short stature Thoracic hypoplasia External genital hypoplasia Anteriorly placed anus Shallow orbits Ventricular extrasystoles Cervical spine instability Arterial dissection Abnormality of the genital system Motor delay Short thumb Melanoma Abnormality of the urinary system Abnormality of the hand Triphalangeal thumb Macrocytic anemia Tracheomalacia Acute leukemia Esophagitis Increased mean corpuscular volume Reticulocytopenia Fetal distress Persistence of hemoglobin F Hyporeflexia Graves disease Kyphoscoliosis Small for gestational age Arthrogryposis multiplex congenita Long face Syncope Tall stature Atrioventricular block Cerebral hemorrhage Reduced subcutaneous adipose tissue Long palpebral fissure Aortic root aneurysm Hiatus hernia Broad face Long phalanx of finger



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