Epicanthus, and Blue sclerae

Diseases related with Epicanthus and Blue sclerae

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

Top matches:

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

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

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

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

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Joint hypermobility Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Joint laxity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Short stature Downslanted palpebral fissures Hernia Inguinal hernia Frontal bossing Macrocephaly Myopia Growth delay Global developmental delay Soft skin Hyperextensible skin Umbilical hernia Hypertelorism Depressed nasal bridge Midface retrusion Low-set ears Microcephaly Brachydactyly Generalized hypotonia Intrauterine growth retardation Cryptorchidism Cutis laxa Hypotelorism Wide nasal bridge Osteopenia Downturned corners of mouth Gingival overgrowth Hip dislocation Scarring Strabismus Retinal detachment Kyphoscoliosis Retrognathia Hypoplasia of the corpus callosum Bruising susceptibility Motor delay

Rare Symptoms - Less than 30% cases

Prominent superficial veins Pes planus Abnormality of the foot Bladder diverticulum Sensorineural hearing impairment Redundant skin Arterial rupture Premature rupture of membranes Large fontanelles Atrophic scars Open bite Bulbous nose Hyperkeratosis Avascular necrosis of the capital femoral epiphysis Dilatation Hiatus hernia Coxa vara Muscular hypotonia Short phalanx of finger Long eyelashes Fragile skin Flexion contracture Proptosis Wide anterior fontanel Upslanted palpebral fissure Patent ductus arteriosus Long philtrum Short nose Femoral hernia Short neck Anteverted nares Joint dislocation Coxa valga Protruding ear Micromelia Spasticity Hip dysplasia Hypodontia Pectus excavatum Hyperextensibility of the finger joints Short palm Spondylolisthesis Disproportionate tall stature Seizures Hyperlordosis Pectus carinatum Increased susceptibility to fractures Posteriorly rotated ears Mitral valve prolapse Congenital hip dislocation Alopecia Abnormal facial shape Molluscoid pseudotumors Severe short stature Agenesis of corpus callosum Deeply set eye Gastroesophageal reflux Delayed speech and language development Oligodontia Osteoporosis Ventriculomegaly Prominent forehead Everted lower lip vermilion Hydrocephalus Optic atrophy Recurrent hypoglycemia Visual impairment Abnormality of the penis Clinodactyly of the 5th finger Syndactyly Hypertonia Ketoacidosis Maternal diabetes Ptosis Hypospadias Euryblepharon Naevus flammeus of the eyelid Increased vertebral height Down-sloping shoulders Onychogryposis of fingernail Kinetic tremor Epispadias Ridged fingernail Bifid tongue Sacral dimple Elbow dislocation Hemivertebrae Abnormal form of the vertebral bodies Long palpebral fissure Hypoplasia of penis Increased number of teeth Capillary hemangioma Anodontia Hypoplastic labia majora Specific learning disability Curly eyelashes High, narrow palate Fingernail dysplasia Wide nose Finger syndactyly Short philtrum Cerebral atrophy Median cleft lip and palate Camptodactyly of finger Clitoral hypoplasia Abnormality of the gingiva Hypoplastic labia minora Microphthalmia Aplasia cutis congenita of scalp Depressivity Mutism Delayed cranial suture closure Aphasia Dysphasia Epiphora Rickets Intracranial hemorrhage Short toe Abnormal joint morphology Thin skin Hypertrichosis Limb undergrowth Microdontia Premature birth Sepsis Prolonged bleeding time Osteomalacia Hirsutism Blepharochalasis Recurrent mandibular subluxations Frontal open bite Abnormality of subcutaneous fat tissue Spontaneous neonatal pneumothorax Gingival hyperkeratosis Enlarged naris Soft, doughy skin Palpebral edema Excessive wrinkled skin Delayed closure of the anterior fontanelle Generalized edema Echolalia Esophagitis Gingival bleeding Thick vermilion border Joint hyperflexibility Abnormal heart morphology Single transverse palmar crease Low anterior hairline Lymphedema Small nail Oligohydramnios Wide intermamillary distance Gliosis Short foot Cerebral palsy Short distal phalanx of finger Polymicrogyria Congenital cataract Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar hypoplasia Narrow palpebral fissure Dermal atrophy Wide mouth High-pitched cry Joint stiffness Vomiting Edema Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita Retrocerebellar cyst Cutis marmorata Retinal fold Brisk reflexes Periventricular leukomalacia Corpus callosum atrophy Aplasia cutis congenita Short finger High pitched voice Aortic dissection Polyuria Dental malocclusion Triangular face Bowing of the long bones Growth abnormality Premature skin wrinkling Colpocephaly Narrow nasal ridge Abnormal glycosylation Cleft palate Ventricular septal defect Kyphosis Clinodactyly Telecanthus Cleft lip Webbed neck Recurrent fractures Broad thumb Patent foramen ovale Tricuspid regurgitation Mesomelia Agenesis of permanent teeth Anteriorly placed anus Pulmonary artery atresia Hypoplastic right heart Muscle weakness Skeletal muscle atrophy Gait disturbance Talipes equinovarus Cardiomyopathy Myopathy Hypoplasia of the maxilla Broad forehead Muscular dystrophy Hallux valgus Cerebellar atrophy Autism Thin upper lip vermilion Autistic behavior Overfolded helix Cupped ear Abnormality of the dentition Visual loss Glaucoma Talipes High myopia Lumbar hyperlordosis Reduced bone mineral density Keratoconus Postnatal growth retardation Megalocornea Atypical scarring of skin Buphthalmos Dentinogenesis imperfecta Red hair Talipes valgus Palmoplantar cutis laxa Keratoglobus Decreased corneal thickness Failure to thrive Abnormality of the skeletal system Malar flattening Brachycephaly Mandibular prognathia Elevated serum creatine phosphokinase Microcornea Hyperglycemia Hypothyroidism Bowel diverticulosis Hyperextensibility at elbow Subcutaneous spheroids Hyperextensibility of the knee Premature birth following premature rupture of fetal membranes Membranous ventricular septal aneurysm Dysarthria Tremor Intellectual disability, severe Delayed skeletal maturation Diabetes mellitus Gait ataxia Narrow mouth Macrotia Myxomatous mitral valve degeneration Sparse hair Small for gestational age Delayed puberty Dysmetria Full cheeks Delayed myelination Round face Renal hypoplasia Fine hair Abnormal vertebral morphology Truncal ataxia Type I diabetes mellitus Polydipsia Hypoplasia of the brainstem Irregularly spaced teeth Narrow maxilla Waddling gait Hypertension Sloping forehead Severe muscular hypotonia Poor head control Easy fatigability Poor suck Congenital muscular dystrophy Difficulty climbing stairs Follicular hyperkeratosis Cleft soft palate Keloids High-frequency sensorineural hearing impairment Abnormal eye morphology Aortic rupture Asthma Cigarette-paper scars Inflammatory abnormality of the skin Osteoarthritis Recurrent urinary tract infections Infantile muscular hypotonia Ectopia lentis Aortic aneurysm Aortic root aneurysm Periodontitis Varicose veins Generalized joint laxity Rectal prolapse Poor wound healing Eczematoid dermatitis Lop ear Abnormality of primary molar morphology


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