Hypertelorism, and Blue sclerae

Diseases related with Hypertelorism and Blue sclerae

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

Top matches:

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

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

Other less relevant matches:

The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • High palate
  • Downslanted palpebral fissures


SOURCES: OMIM ORPHANET MENDELIAN

More info about LOEYS-DIETZ SYNDROME

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Top 5 symptoms//phenotypes associated to Hypertelorism and Blue sclerae

Symptoms // Phenotype % cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Midface retrusion Brachydactyly Patent foramen ovale Global developmental delay Cryptorchidism Micrognathia Pectus excavatum Talipes equinovarus Kyphosis Inguinal hernia Long philtrum Prominent forehead Wide nasal bridge Depressed nasal bridge Low-set ears Hydrocephalus Joint dislocation Proptosis Large fontanelles Bruising susceptibility Joint hypermobility Skeletal dysplasia Bowing of the long bones Brachycephaly Generalized hypotonia Intrauterine growth retardation Anteverted nares Growth delay Patent ductus arteriosus Osteopenia Recurrent fractures Motor delay Craniosynostosis Intellectual disability

Rare Symptoms - Less than 30% cases

Finger clinodactyly Short metacarpal Joint laxity Malar flattening Camptodactyly Protruding ear Gastroesophageal reflux Scarring Arachnodactyly Prominent supraorbital ridges Mitral valve prolapse Joint hyperflexibility Failure to thrive Clinodactyly Hearing impairment Bifid uvula Cleft palate Broad thumb Webbed neck Epicanthus Ventriculomegaly Postnatal growth retardation Downturned corners of mouth Bicuspid aortic valve Short neck Short nose Retrognathia Telecanthus Congenital hip dislocation Flexion contracture Tapered finger Deeply set eye Abnormal facial shape Osteoporosis Hernia Delayed speech and language development Central hypotonia Abnormality of the metaphysis Coronal craniosynostosis Turricephaly High pitched voice Wormian bones Triangular face Platyspondyly Hip dislocation Pes planus Thin skin Cutis laxa Severe short stature Edema Pyloric stenosis Narrow nasal ridge Muscular hypotonia Full cheeks Bilateral ptosis Low anterior hairline Clinodactyly of the 5th finger Conductive hearing impairment Oculomotor apraxia Feeding difficulties in infancy Hypoplasia of the corpus callosum Abnormality of the pinna Widely spaced teeth Short philtrum Pulmonic stenosis Constipation Thick eyebrow Hirsutism Hypospadias Broad nasal tip Hypertonia Delayed puberty Intellectual disability, mild Cerebellar hypoplasia Sensorineural hearing impairment Delayed CNS myelination Chordee Hypertrichosis Tethered cord Lower limb hypertonia Narrow nasal tip Cerebral white matter hypoplasia Spinal canal stenosis Apraxia Narrow nasal bridge Syringomyelia Delayed myelination Exotropia Supernumerary nipple Short thumb Highly arched eyebrow Synophrys Hypoplastic toenails Abnormal vertebral morphology Thin upper lip vermilion Clonus Hepatomegaly Pointed chin Protuberant abdomen Short foot Limb undergrowth Abnormality of epiphysis morphology Rhizomelia Wide anterior fontanel Recurrent pneumonia Disproportionate short-limb short stature Short long bone Relative macrocephaly Metaphyseal irregularity Flat occiput Hypophosphatemia Bell-shaped thorax Short palm Delayed epiphyseal ossification Flat acetabular roof Metaphyseal cupping Renal phosphate wasting Hypoplastic ischia Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Small hand Micromelia Coxa valga Fused cervical vertebrae Abnormality of the genitourinary system Deep philtrum Short metatarsal Stridor Hyperostosis Decreased muscle mass Dislocated radial head Hip contracture Pierre-Robin sequence Tracheal stenosis Ulcerative colitis Neurogenic bladder Ulnar deviation of the hand Narrow chest Subglottic stenosis Sclerotic vertebral endplates Large joint dislocations Ptosis Respiratory insufficiency Splenomegaly Delayed skeletal maturation Recurrent respiratory infections Respiratory failure Polyhydramnios Respiratory tract infection Joint stiffness Wide mouth Feeding difficulties Tall stature Strabismus Hypoplasia of the musculature Talipes Generalized muscle weakness Mitral regurgitation Dental crowding Delayed gross motor development Adducted thumb Hyperextensible skin Bilateral talipes equinovarus Fragile skin Facial hypotonia Ventricular septal defect Arthralgia Upslanted palpebral fissure Cleft lip Dental malocclusion Long eyelashes Short phalanx of finger Gingival overgrowth Tricuspid regurgitation Mesomelia Agenesis of permanent teeth Anteriorly placed anus Pulmonary artery atresia Myalgia Narrow mouth Microcephaly Blepharophimosis Oligohydramnios Microretrognathia Reduced bone mineral density Thin ribs Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Posteriorly rotated ears Glaucoma Sparse hair Thin vermilion border Cerebral atrophy Underdeveloped nasal alae Fine hair Elbow flexion contracture Narrow palpebral fissure Athetosis Congenital glaucoma Excessive wrinkled skin Dermal translucency Muscle weakness Pain Myopathy Hypoplastic right heart Abnormality of the skeletal system Seizures Hydrops fetalis Spondylolisthesis Pneumothorax Thoracic aortic aneurysm Arterial tortuosity Dural ectasia Arterial dissection Uterine rupture Delayed eruption of teeth Microdontia Abnormality of the ribs Abnormal form of the vertebral bodies Abnormality of dental enamel Atypical scarring of skin Increased susceptibility to fractures Abnormality of the voice Pathologic fracture Hyperthyroidism Shallow orbits Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Aortic dissection Dilatation of the cerebral artery Agenesis of corpus callosum Dilatation Mandibular prognathia Broad forehead Bulbous nose Hypoplasia of the maxilla Hypotelorism Growth abnormality Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Abnormal glycosylation Camptodactyly of finger Subarachnoid hemorrhage Pectus carinatum Dolichocephaly Oral cleft Abnormal bleeding Cardiac arrest Ectopia lentis Aortic aneurysm Emphysema Abnormality of the sternum Striae distensae Aortic root aneurysm Posterior rib cupping


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