Hypertelorism, and Mitral valve prolapse

Diseases related with Hypertelorism and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Hypertelorism and Mitral valve prolapse that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Short stature
  • Hypertelorism
  • Hepatomegaly
  • Respiratory insufficiency
  • Short nose


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 2; GPHYSD2

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Other less relevant matches:

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES 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

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

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Mitral valve prolapse

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus Downslanted palpebral fissures Hernia Intellectual disability Pes planus Mitral regurgitation Epicanthus Abnormal facial shape Inguinal hernia Talipes Anteverted nares Low-set ears Macrocephaly Frontal bossing Ventricular septal defect Pulmonic stenosis Growth delay Short nose Long philtrum

Rare Symptoms - Less than 30% cases

Ptosis Dental crowding Respiratory insufficiency Cryptorchidism Nystagmus Scoliosis Generalized hypotonia Hypoplasia of the musculature Arachnodactyly Bruising susceptibility Triangular face Protruding ear Camptodactyly Telecanthus Midface retrusion Micrognathia Joint laxity Pointed chin Deep philtrum Abnormal heart morphology Abnormality of the skeletal system Renal dysplasia Neutropenia Renal cyst Mitral stenosis Retrognathia Upslanted palpebral fissure Feeding difficulties Aortic regurgitation Microcephaly Broad columella Cleft palate Disproportionate tall stature Osteoporosis Migraine Ventricular hypertrophy Pain Neoplasm Smooth philtrum Posteriorly rotated ears Strabismus Coarse facial features Microcornea Enlarged kidney Hypoplasia of penis Long foot Varicose veins Retinal coloboma Long hallux Renal malrotation Bifid ureter Thick lower lip vermilion Retinal dystrophy Large for gestational age Dilatation Hemolytic anemia Umbilical hernia Iris coloboma Dental malocclusion Blepharophimosis Hypogonadism Atrial fibrillation Splenomegaly Osteoarthritis Headache Bowing of the legs Bicuspid aortic valve Macroglossia Sensorineural hearing impairment Spherocytosis Intellectual disability, mild Macrotia Deeply set eye Coloboma Astigmatism Thick vermilion border Abnormality of the hypothalamus-pituitary axis External ear malformation Round face Large hands Preauricular pit Intestinal malrotation Overgrowth Anosmia Tall stature Spina bifida Spina bifida occulta Sacral dimple Azoospermia Nephroblastoma Hypogonadotrophic hypogonadism Left ventricular hypertrophy Depressed nasal bridge Back pain Abnormality of the genital system Dural ectasia Abdominal aortic aneurysm Protrusio acetabuli Abnormality of the urinary system Intervertebral disc degeneration Melanoma Uterine prolapse Knee osteoarthritis Failure to thrive Short thumb Anemia Abnormality of the hand Intrauterine growth retardation Fatigue Arrhythmia Autism Cleft lip Pallor Autistic behavior Delayed puberty Cleft upper lip Depressed nasal ridge Bifid uvula Arterial tortuosity Triphalangeal thumb Tetralogy of Fallot Abnormal joint morphology Seizures Persistence of hemoglobin F Aortic aneurysm Abnormality of the sternum Fetal distress Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Esophagitis Slender finger Striae distensae Hip osteoarthritis Subarachnoid hemorrhage Dilatation of the cerebral artery Soft skin Aortic dissection Spondylolisthesis Acute leukemia Low back pain Hearing impairment Thoracic aortic aneurysm Tracheomalacia Macrocytic anemia Osteochondritis Dissecans Wide mouth Infra-orbital crease Sagittal craniosynostosis Pectus excavatum Joint stiffness Polyhydramnios Hypertrophic cardiomyopathy Craniosynostosis Leukemia Dolichocephaly Webbed neck Pterygium Cystic hygroma Scaphocephaly Myeloproliferative disorder Short foot Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Muscle weakness Motor delay Thin upper lip vermilion Myopathy Cerebral atrophy Delayed skeletal maturation Brachycephaly Short palm Cognitive impairment Arthralgia Low-set, posteriorly rotated ears Peripheral neuropathy Myopia Ovoid vertebral bodies Toe walking Cone-shaped epiphysis Short neck Cardiomyopathy Aortic valve stenosis Hyperkeratosis Proptosis High forehead Sparse hair Full cheeks Broad forehead Pulmonary arterial hypertension Peripheral axonal neuropathy Ichthyosis Fine hair Hemangioma Bilateral ptosis Sparse eyebrow Absent eyebrow Curly hair Arthropathy Neuropathic arthropathy Narrow mouth Myalgia Narrow philtrum Hypermetropia Narrow naris Biventricular hypertrophy Hypoplastic heart Hepatomegaly Wide nasal bridge Ventriculomegaly Hypoplasia of the corpus callosum Agenesis of corpus callosum Neonatal hypotonia Hydronephrosis Abnormality of the pinna Poor speech Hand clenching Growth hormone deficiency Coarctation of aorta Short palpebral fissure Narrow palate Flat occiput Hypoplastic left heart Delayed ability to walk Inverted nipples Low hanging columella Gastrointestinal dysmotility Oval face Wide nasal base Pneumothorax Scarring Flexion contracture Joint hypermobility Generalized muscle weakness Blue sclerae Joint dislocation Delayed gross motor development Adducted thumb Hyperextensible skin Patent foramen ovale Bilateral talipes equinovarus Fragile skin Facial hypotonia Kyphoscoliosis Entropion Broad nasal tip Hip dysplasia Convex nasal ridge Decreased body weight Knee flexion contracture Cutis laxa Laryngomalacia Bilateral cryptorchidism Tricuspid regurgitation Right bundle branch block Bundle branch block Reduced subcutaneous adipose tissue Supernumerary ribs


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