Epicanthus, and Thin skin

Diseases related with Epicanthus and Thin skin

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

Top matches:

High match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

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

Other less relevant matches:

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

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A Is also known as hed|ectodermal dysplasia, hypohidrotic, autosomal dominant

Related symptoms:

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Dry skin
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A

Top 5 symptoms//phenotypes associated to Epicanthus and Thin skin

Symptoms // Phenotype % cases
Joint hyperflexibility Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Joint hypermobility Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Motor delay Growth delay Joint laxity Joint dislocation Umbilical hernia Scoliosis Inguinal hernia Gastroesophageal reflux Hip dislocation Pes planus Ptosis Osteoporosis Hypertelorism Failure to thrive Blue sclerae Pectus excavatum Intellectual disability Talipes equinovarus Prominent forehead Cryptorchidism Microdontia Gingival overgrowth Sparse and thin eyebrow Bruising susceptibility Hyperextensible skin Muscular hypotonia Osteopenia Myopia Hernia Low-set ears Carious teeth Arterial dissection Micrognathia Hearing impairment Atypical scarring of skin Severe short stature Vomiting Gingivitis Soft skin Sparse hair Abnormality of the dentition Dilatation Anteverted nares Keratoconus Thick vermilion border Mitral valve prolapse Seizures Premature rupture of membranes Flexion contracture Ventriculomegaly Fine hair Single transverse palmar crease Retrognathia Glaucoma Alopecia Sparse eyebrow Telecanthus Corneal dystrophy Blindness Hydrocephalus Pectus carinatum Neonatal hypotonia Narrow mouth Macrocephaly Dermal translucency Abnormality of cardiovascular system morphology Strabismus

Rare Symptoms - Less than 30% cases

Hyperkeratosis Prematurely aged appearance Hip dysplasia Premature birth Downslanted palpebral fissures Sparse scalp hair Sepsis Hypodontia Congestive heart failure Respiratory distress Atrophic scars Hirsutism Periodontitis Short palm Varicose veins Wide nasal bridge Scarring Joint stiffness Respiratory insufficiency Sparse eyelashes Progeroid facial appearance Kyphosis Edema Cutis laxa Hypertrichosis Abnormal joint morphology Short neck Abnormally large globe Dental crowding Insulin resistance Soft, doughy skin Excessive wrinkled skin Arterial rupture Proptosis Hiatus hernia Palpebral edema Kyphoscoliosis Aortic regurgitation Microcornea Abnormality of the nervous system Fragile skin Wide anterior fontanel Aortic dissection Coxa valga Abnormal bleeding Bladder diverticulum Redundant skin Intracranial hemorrhage Hyperlordosis Ovoid vertebral bodies Dolichocephaly Flat face Abnormality of skin pigmentation Heart murmur Arachnodactyly Pulmonic stenosis Aortic aneurysm Recurrent pneumonia Molluscoid pseudotumors Cystocele Coarctation of aorta High forehead Hypoglycemia Hypertrophic cardiomyopathy Constipation Postnatal growth retardation Pain Hypotrichosis Thin vermilion border High, narrow palate Generalized hirsutism Wide intermamillary distance Congenital hip dislocation Lens luxation Hoarse voice Vertigo Coarse facial features Coarse hair Narrow face High myopia Retinal detachment Aplasia/Hypoplasia of the eyebrow Retinal degeneration Patent ductus arteriosus Slow-growing hair Midface retrusion Visual impairment Nystagmus Ataxia Macrotia Absent earlobe Cardiomyopathy Osteoarthritis Ventricular septal defect Posteriorly rotated ears Elbow dislocation Aortic root aneurysm Brachydactyly Abnormal heart valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Atrial septal defect Abnormal palate morphology Osteolysis Feeding difficulties High palate Subcutaneous nodule Ascending tubular aorta aneurysm Short nose Dry skin Migraine Abdominal distention Abnormality of the gingiva Abnormality of the face Progressive alveolar ridge hypertropy Superior pectus carinatum Abnormality of the skin Bullet-shaped phalanges of the hand Abnormal location of ears Loose anagen hair Hypertension Broad fingertip Abnormality of the nasal bridge Hepatomegaly Cardiac arrest Deficiency of N-acetylglucosamine-1-phosphotransferase Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Hypoplasia of the odontoid process Telangiectasia Abnormality of the testis Redundant neck skin Arthritis Abnormality of refraction Cognitive impairment Hypospadias Deeply set eye Lower thoracic interpediculate narrowness Beaking of vertebral bodies T12-L3 Thickened calvaria Abnormality of the intervertebral disk Abnormality of the skeletal system Peripheral pulmonary artery stenosis Protruding ear Varus deformity of humeral neck Thickened helices Abnormality of the pulmonary artery Flat acetabular roof Protuberant abdomen Splenomegaly Radial bowing Carpal bone hypoplasia Myelopathy Abnormality of the rib cage Short long bone Flared iliac wings Metaphyseal widening Abnormality of the thorax Vertebral fusion Flared metaphysis Severe postnatal growth retardation Lack of skin elasticity Dysostosis multiplex Hypoplastic scapulae Diastasis recti Corneal erosion Pericardial effusion Pathologic fracture Recurrent bronchitis Abnormality of nervous system morphology Opacification of the corneal stroma Long philtrum Narrow forehead Pneumonia Recurrent respiratory infections Weight loss Respiratory tract infection Urinary glycosaminoglycan excretion Severe global developmental delay Macroglossia Brain atrophy Cardiomegaly Mucopolysacchariduria Split hand Thoracolumbar kyphoscoliosis Megalocornea Recurrent otitis media Thickened skin Atlantoaxial dislocation Short chin Broad alveolar ridges Cavernous hemangioma Large sella turcica Abnormal oral frenulum morphology Abnormal intestine morphology Narrow palate Bell-shaped thorax Growth hormone excess Abnormality of the thyroid gland Metatarsus adductus Hyperglycemia Neonatal respiratory distress Clitoral hypertrophy Precocious puberty Poor suck Polycystic ovaries Abnormality of the outer ear Acanthosis nigricans Nephrocalcinosis Preauricular skin tag Furrowed tongue Epidermal acanthosis Optic disc pallor Dehydration Intestinal malrotation Postaxial polydactyly Iris coloboma Long face Astigmatism Smooth philtrum Coloboma Blepharophimosis Abnormality of the pinna Feeding difficulties in infancy Abnormality of the kidney Ketoacidosis Bilateral conductive hearing impairment Proteinuria Hyperhidrosis Delayed eruption of primary teeth Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Conical tooth Heat intolerance Anodontia Agenesis of permanent teeth Anhidrosis Hypohidrosis Nail dysplasia Ectodermal dysplasia Delayed eruption of teeth Onychauxis Ovarian cyst Long palm Laryngeal stridor Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Abnormality of the upper urinary tract Diastema Advanced eruption of teeth Hypocholesterolemia Long penis Thick nail Muscular hypotonia of the trunk Conductive hearing impairment Sleep apnea Subarachnoid hemorrhage Ocular pain Arterial stenosis Premature loss of primary teeth Periorbital edema Pneumothorax Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Hematochezia Transient ischemic attack Narrow nose Abnormal eyelash morphology Dilatation of the cerebral artery Gastrointestinal infarctions Alopecia of scalp Premature loss of teeth Sprengel anomaly Esophageal atresia Hemoptysis Scleroderma Telangiectasia of the skin Narrow nasal bridge Macule Melanocytic nevus Rheumatoid arthritis Hypokalemia Abnormality of the urinary system Tinnitus Abnormality of hair texture Colonic diverticula Thin upper lip vermilion Hemothorax Mandibular prognathia Polydactyly Brachycephaly Diabetes mellitus Upslanted palpebral fissure Clinodactyly of the 5th finger Absent speech Recurrent infections Intellectual disability, severe Hypoplasia of the corpus callosum Intrauterine growth retardation Peripheral neuropathy Microcephaly Hypermobility of distal interphalangeal joints Premature delivery because of cervical insufficiency or membrane fragility Internal hemorrhage Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Foot acroosteolysis Spontaneous pneumothorax Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Arteriovenous fistula Cigarette-paper scars Enlarged cisterna magna Spina bifida occulta Hypomagnesemia Tendon rupture Rickets Mutism Coxa vara Short toe Short phalanx of finger Large fontanelles Limb undergrowth Everted lower lip vermilion Micromelia Wide mouth Genital hernia Anorectal anomaly Open bite Abnormality of the menstrual cycle Venous insufficiency Gastrointestinal dysmotility Abnormality of the wrist Acrocyanosis Striae distensae Keratoconjunctivitis sicca Decreased fertility Decreased nerve conduction velocity Wormian bones Limitation of joint mobility Epiphora Dysphasia Nausea Gingival hyperkeratosis Broad forehead Microtia Skeletal dysplasia Intellectual disability, mild Skeletal muscle atrophy Cleft palate Abnormality of primary molar morphology Recurrent mandibular subluxations Frontal open bite Abnormality of subcutaneous fat tissue Spontaneous neonatal pneumothorax Enlarged naris Aphasia Blepharochalasis Femoral hernia Avascular necrosis of the capital femoral epiphysis Delayed closure of the anterior fontanelle Generalized edema Echolalia Esophagitis Gingival bleeding Osteomalacia Prolonged bleeding time Delayed cranial suture closure Sleep disturbance Paresthesia Narrow chest Encephalocele Occipital encephalocele Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Dextrocardia Ectopia lentis Pyloric stenosis Macular degeneration Horizontal nystagmus Abnormality of the hair Pachygyria Progressive visual loss Acute lymphoblastic leukemia Vesicoureteral reflux Bulbous nose Polymicrogyria Congenital cataract Leukemia Nyctalopia Mental deterioration Visual loss Cerebral atrophy Cerebellar atrophy Cataract Aplasia cutis congenita Meningocele Abnormality of the foot Peripapillary atrophy Malabsorption Nausea and vomiting Apnea Myalgia Arthralgia Arrhythmia Depressivity Fatigue Cephalocele Bifid ureter Occipital meningocele Exudative retinal detachment Vitreoretinopathy Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Hypermetropia Triangular face Fragile nails Delayed skeletal maturation Eczema Cyanosis Dandy-Walker malformation Growth hormone deficiency Webbed neck Ichthyosis Attention deficit hyperactivity disorder Craniosynostosis Low-set, posteriorly rotated ears Hypothyroidism Hyperactivity Delayed speech and language development Low posterior hairline Progressive congenital scoliosis Spontaneous rupture of the globe Decreased pulmonary function Moderate myopia Wrist drop Palmoplantar cutis laxa Dural ectasia Keloids Thoracic kyphoscoliosis Subcutaneous hemorrhage Generalized joint laxity Ventricular hypertrophy Thick lower lip vermilion Abnormality of the hip bone Failure to thrive in infancy Abnormality of the elbow Broad neck Arnold-Chiari type I malformation Atopic dermatitis Natal tooth Freckling Neurodevelopmental delay Abnormality of coagulation Right bundle branch block Hypoplastic toenails Overfolded helix Patent foramen ovale Mitral regurgitation Nasal speech Deep philtrum Relative macrocephaly Optic nerve hypoplasia Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Cafe-au-lait spot Slender finger Disproportionate tall stature Bifid uvula Proportionate short stature Flat forehead Talipes equinovalgus Forearm undergrowth Ulnar bowing Long toe Poor wound healing Small face Generalized osteoporosis Mild global developmental delay Genu recurvatum Short clavicles Curly hair Prominent scalp veins Bowing of the legs Bilateral cryptorchidism Lipodystrophy Radioulnar synostosis Accelerated skeletal maturation Elbow flexion contracture Aortic valve stenosis Bowing of the long bones Cutaneous photosensitivity Congenital diaphragmatic hernia Nevus Advanced ossification of carpal bones Large joint dislocations Torticollis Polyneuropathy Hyperbilirubinemia Increased body weight Spina bifida Joint contracture of the hand Tall stature Decreased fetal movement Oligohydramnios Overgrowth Esotropia Gastrointestinal hemorrhage Generalized muscle weakness Unsteady gait Slender toe Talipes Retinopathy Abnormality of metabolism/homeostasis Myopathy Gait disturbance Muscle weakness Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Short eyelashes


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