Epicanthus, and Scarring

Diseases related with Epicanthus and Scarring

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

Top matches:

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

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

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

Other less relevant matches:

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

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

Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

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

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Top 5 symptoms//phenotypes associated to Epicanthus and Scarring

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Joint hypermobility Common - Between 50% and 80% cases
Hyperextensible skin Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Soft skin Generalized hypotonia Joint dislocation Short stature Blue sclerae Motor delay Inguinal hernia Kyphoscoliosis Umbilical hernia Bruising susceptibility Joint laxity Muscular hypotonia Sensorineural hearing impairment Abnormality of the dentition Pes planus Joint hyperflexibility Downslanted palpebral fissures Myopia Osteoporosis Ptosis Mitral valve prolapse Premature rupture of membranes Wide nasal bridge Atypical scarring of skin Depressed nasal bridge Global developmental delay Flexion contracture Low-set ears Edema Talipes equinovarus Atrophic scars Hyperkeratosis Micrognathia Osteopenia Cutis laxa Abnormality of the foot Macrocephaly Frontal bossing Short neck Thin skin Abnormal facial shape

Rare Symptoms - Less than 30% cases

Flat face Hydronephrosis Intracranial hemorrhage Migraine Abnormal vertebral morphology Osteolysis Vertigo Elbow dislocation Hip dysplasia Gingivitis Coarse hair Telecanthus Malar flattening Fatigue Arterial rupture Bladder diverticulum Coxa valga Growth delay Severe short stature Abnormality of the nervous system Soft, doughy skin Skeletal dysplasia Proptosis Alopecia Prolonged bleeding time Kyphosis Limb undergrowth Poor wound healing Cryptorchidism Gastroesophageal reflux Apnea Hypotelorism Depressivity Vomiting Hip dislocation Failure to thrive Pain Sparse eyelashes Sparse and thin eyebrow Pectus excavatum Abnormality of the skeletal system Varicose veins Periodontitis Microdontia Hiatus hernia Aortic root aneurysm Fragile skin Osteoarthritis Hypertelorism Gingival overgrowth Dilatation Wormian bones Midface retrusion Nausea and vomiting Thick vermilion border Glaucoma Skeletal muscle atrophy Redundant skin Aplasia/Hypoplasia of the skin Keratoconus Gait disturbance Disproportionate tall stature Sparse hair Increased susceptibility to fractures Molluscoid pseudotumors Visual loss Hypertension Patent ductus arteriosus Talipes Microcornea Nystagmus Hyperextensibility of the finger joints Retinal detachment Spondylolisthesis Pectus carinatum Hyperlordosis Sparse scalp hair Foot polydactyly Abnormality of the thorax Congenital ichthyosiform erythroderma Patellar dislocation Bowing of the long bones Bilateral talipes equinovarus Cutaneous photosensitivity Tracheal stenosis Fine hair Erythroderma Epiphyseal stippling Abnormality of the middle ear ossicles Aortic valve stenosis Lipodystrophy Short clavicles Proportionate short stature Curly hair Bowing of the legs Bilateral cryptorchidism Sparse eyebrow Hemivertebrae Elbow flexion contracture Abnormality of the fingernails Radioulnar synostosis Concave nasal ridge Abnormality of pelvic girdle bone morphology Scaling skin Accelerated skeletal maturation Congenital diaphragmatic hernia Abnormality of skin pigmentation Nevus Abnormality of primary molar morphology Tracheal calcification Punctate vertebral calcifications Elevated 8-dehydrocholesterol Cleft palate Elevated 8(9)-cholestenol Tarsal stippling Intellectual disability Recurrent mandibular subluxations Abnormality of cardiovascular system morphology Frontal open bite Abnormality of subcutaneous fat tissue Spontaneous neonatal pneumothorax Gingival hyperkeratosis Enlarged naris Blepharochalasis Excessive wrinkled skin Femoral hernia Intellectual disability, mild Hyperkeratosis with erythema Bifid uvula Hypermetropia Triangular face Single transverse palmar crease Dry hair Mild global developmental delay Arachnodactyly Pulmonic stenosis Narrow chest Broad forehead Vertebral wedging Microtia Abnormality of hair texture Butterfly vertebrae Scarring alopecia of scalp Hemiatrophy Patchy alopecia Narrow mouth Prominent forehead Genu recurvatum Dermal translucency Progeroid facial appearance Bicuspid aortic valve Vertebral fusion Neurofibromas Back pain Nasal speech Atresia of the external auditory canal Arnold-Chiari malformation Sleep apnea Microretrognathia Optic atrophy Narrow palate Increased bone mineral density Delayed closure of the anterior fontanelle Microphthalmia Narrow face Clinodactyly of the 5th finger Dental crowding Abnormal form of the vertebral bodies Slender long bone Thickened calvaria Abnormality of the skin Short nasal bridge Large sella turcica Basilar impression Sclerosis of skull base Tethered cord Biconcave vertebral bodies Platybasia Low back pain Generalized osteosclerosis Prominent metopic ridge Abnormality of the rib cage Craniofacial hyperostosis Osteolytic defects of the phalanges of the hand Cataract Meningocele Arachnoid cyst Arnold-Chiari type I malformation Syringomyelia Low posterior hairline Urinary incontinence Generalized osteoporosis Dandy-Walker malformation Slender toe Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Postaxial polydactyly Flat forehead Esotropia Absent earlobe Testicular torsion Talipes equinovalgus Abnormality of epiphysis morphology Forearm undergrowth Ulnar bowing Dural ectasia Rhizomelia Long toe Small face Ichthyosis Phalangeal dislocation High, narrow palate Postnatal growth retardation Iris coloboma Smooth philtrum Polydactyly Dolichocephaly Polyhydramnios Conductive hearing impairment Intellectual disability, moderate Posteriorly rotated ears Long philtrum Erythema Ventricular septal defect Abnormality of the pinna Peripheral neuropathy Feeding difficulties High palate Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Avascular necrosis of the capital femoral epiphysis Keratoconjunctivitis sicca Generalized edema Keloids Respiratory insufficiency Fever Hepatomegaly Anemia Neoplasm Aortic rupture Abnormal eye morphology High-frequency sensorineural hearing impairment Cleft soft palate Splenomegaly Follicular hyperkeratosis Difficulty climbing stairs Congenital muscular dystrophy Poor suck Easy fatigability Poor head control Severe muscular hypotonia Sloping forehead Cerebellar atrophy Syndactyly Muscular dystrophy Hemolytic anemia Myelodysplasia Leukopenia Bone marrow hypocellularity Lymphedema Pancytopenia Webbed neck Tapered finger Hematuria Cirrhosis Immunodeficiency Lymphadenopathy Neurological speech impairment Leukemia Pallor Weight loss Respiratory failure Recurrent respiratory infections Thrombocytopenia Recurrent infections Waddling gait Elevated serum creatine phosphokinase Leukocytosis Horizontal nystagmus Abnormal hair pattern Sparse lateral eyebrow Absent eyelashes Abnormal eyelash morphology Aplasia cutis congenita Prematurely aged appearance Multiple cafe-au-lait spots Hypopigmented skin patches Depressed nasal ridge Lacrimation abnormality Broad nasal tip Highly arched eyebrow Downturned corners of mouth Bulbous nose Anal atresia Short philtrum Upslanted palpebral fissure Strabismus Periorbital fullness Abnormality of the upper urinary tract Myopathy Buphthalmos Cardiomyopathy Muscle weakness Decreased corneal thickness Keratoglobus Palmoplantar cutis laxa Talipes valgus Red hair Dentinogenesis imperfecta Megalocornea Dimple chin Hallux valgus Reduced bone mineral density Congenital hip dislocation Lumbar hyperlordosis High myopia Congenital horizontal nystagmus Sparse lower eyelashes Abnormality of the sacroiliac joint Distichiasis Chronic otitis media Cellulitis Echolalia Arterial dissection Short palm Micromelia Wide mouth Joint stiffness Retrognathia Genital hernia Cystocele Tendon rupture Anorectal anomaly Everted lower lip vermilion Abnormality of the gingiva Abnormality of the menstrual cycle Ascending tubular aorta aneurysm Venous insufficiency Gastrointestinal dysmotility Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the wrist Acrocyanosis Hirsutism Hypodontia Decreased fertility Open bite Esophagitis Gingival bleeding Palpebral edema Osteomalacia Abnormal joint morphology Delayed cranial suture closure Aphasia Dysphasia Epiphora Sepsis Rickets Mutism Coxa vara Short toe Wide anterior fontanel Short phalanx of finger Large fontanelles Hypertrichosis Premature birth Striae distensae Decreased nerve conduction velocity Myeloid leukemia Asthma Rectal prolapse Generalized joint laxity Aortic dissection Aortic aneurysm Ectopia lentis Infantile muscular hypotonia Recurrent urinary tract infections Inflammatory abnormality of the skin Abnormal neutrophil count Lop ear Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Verrucae Hypercoagulability Acute leukemia Acute myeloid leukemia Eczematoid dermatitis Cigarette-paper scars Abnormal palate morphology Arthralgia Subcutaneous nodule Limitation of joint mobility Abdominal distention Sleep disturbance Nausea Paresthesia Malabsorption Myalgia Constipation Narrow maxilla Arrhythmia Membranous ventricular septal aneurysm Premature birth following premature rupture of fetal membranes Hyperextensibility of the knee Subcutaneous spheroids Hyperextensibility at elbow Bowel diverticulosis Irregularly spaced teeth Myxomatous mitral valve degeneration Stippled calcification in carpal bones


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Pancytopenia, related diseases and genetic alterations Generalized hypotonia and Pectus excavatum, related diseases and genetic alterations Carcinoma and Short philtrum, related diseases and genetic alterations Ataxia and Choanal atresia, related diseases and genetic alterations Hepatomegaly and Dementia, related diseases and genetic alterations Muscular hypotonia and Genu valgum, related diseases and genetic alterations