Epicanthus, and Arachnodactyly

Diseases related with Epicanthus and Arachnodactyly

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

Top matches:

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

High match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Other less relevant matches:

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

High match ALG3-CDG

ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS Is also known as escobar syndrome|multiple pterygium syndrome|pterygium syndrome|multiple pterygium syndrome, nonlethal type|pterygium colli syndrome|pterygium universale

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

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

Top 5 symptoms//phenotypes associated to Epicanthus and Arachnodactyly

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Generalized hypotonia Micrognathia Low-set ears Flexion contracture Narrow mouth Pectus excavatum Hearing impairment Failure to thrive Cleft palate Growth delay Seizures Deeply set eye Microcephaly Cryptorchidism Talipes equinovarus Abnormality of the dentition Muscular hypotonia Short neck Macrocephaly Narrow forehead Short philtrum Respiratory distress Downslanted palpebral fissures Optic atrophy Arthrogryposis multiplex congenita Nystagmus Blepharophimosis Camptodactyly Long fingers Brachycephaly Ventriculomegaly Cerebral atrophy Mandibular prognathia Hypermetropia Visual impairment Frontal bossing Depressed nasal bridge Telecanthus Hypoplasia of the corpus callosum Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Lipodystrophy Triangular face Congenital contracture Long foot Alopecia Sparse eyebrow Abnormality of skin pigmentation Long face Narrow face Skeletal muscle atrophy Hernia Thin vermilion border Feeding difficulties Clinodactyly Curly hair Distal arthrogryposis Protruding ear Ptosis Smooth philtrum Broad forehead Exotropia Focal segmental glomerulosclerosis Joint laxity Cerebral visual impairment Joint contracture of the hand Prominent forehead Adducted thumb Abnormality of cardiovascular system morphology Neoplasm Glomerulosclerosis Vertebral fusion Pachygyria Nephrotic syndrome Kyphosis Stage 5 chronic kidney disease Proteinuria Spasticity Hypoplastic nipples Hemivertebrae Iris coloboma Abnormality of the neck Upslanted palpebral fissure Coloboma Short palpebral fissure Joint hypermobility Bulbous nose Astigmatism Craniosynostosis Proptosis Small for gestational age Bifid uvula Cerebellar hypoplasia Hip dislocation Congenital diaphragmatic hernia Midface retrusion Dental malocclusion Furrowed tongue Neonatal respiratory distress Pterygium Patellar aplasia Cutaneous syndactyly Down-sloping shoulders Aortic regurgitation Rocker bottom foot Abnormal vertebral morphology Abnormality of the genital system Multiple joint contractures Male hypogonadism Decreased fetal movement Dislocated radial head Severe muscular hypotonia Downturned corners of mouth Facial asymmetry Infantile muscular hypotonia Fused cervical vertebrae Horseshoe kidney Abnormality of the ribs Esotropia Full cheeks Short foot Small hand Abnormality of the cerebral white matter Unilateral renal agenesis Autistic behavior Postnatal growth retardation Developmental regression Thin upper lip vermilion Autism Visual loss Short nose Ventricular septal defect Relative macrocephaly Abnormality of coagulation Pulmonary hypoplasia Inguinal hernia Talipes Delayed puberty Respiratory tract infection Abnormality of the kidney Conductive hearing impairment Umbilical hernia Micropenis Hypogonadism Hypospadias Arachnoid cyst Syndactyly Long philtrum Myopathy Respiratory insufficiency Abnormality of the skeletal system Intestinal atresia Periventricular leukomalacia Soft skin Rib fusion Osteopenia Diaphragmatic eventration Bilateral cryptorchidism Periodontitis Atypical scarring of skin Gingivitis Genu recurvatum Short clavicles Proportionate short stature Atrophic scars Bowing of the legs Elbow dislocation Progeroid facial appearance Radioulnar synostosis Hyperextensible skin Cutis laxa Sparse eyelashes Accelerated skeletal maturation Joint dislocation Coxa valga Elbow flexion contracture Mild global developmental delay Varicose veins Sparse and thin eyebrow Advanced ossification of carpal bones Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Soft, doughy skin Large joint dislocations Prominent scalp veins Flat forehead Generalized osteoporosis Absent earlobe Talipes equinovalgus Forearm undergrowth Ulnar bowing Dermal translucency Long toe Poor wound healing Small face Aortic valve stenosis Bowing of the long bones Long clavicles Hypoplastic heart Motor delay Dysplastic patella Anterior clefting of vertebral bodies Absence of labia majora Exostosis of the external auditory canal Intercrural pterygium Neck pterygia Axillary pterygium Bilateral camptodactyly Severe short stature Antecubital pterygium Cervical C2/C3 vertebral fusion Prune belly Talipes calcaneovalgus Camptodactyly of toe Popliteal pterygium Multiple pterygia Clitoral hypoplasia Intellectual disability, mild Osteoporosis Thin skin Joint hyperflexibility Sparse scalp hair Fine hair Cutaneous photosensitivity Blue sclerae Nevus Single transverse palmar crease Bruising susceptibility Flat face Pulmonic stenosis Kyphoscoliosis Narrow chest Microtia Pectus carinatum Scarring Abnormality of the nervous system Pes planus Skeletal dysplasia Diffuse mesangial sclerosis Hypertensive crisis Abnormality of the hip bone Hand clenching Hyperglycemia Abnormality of the optic nerve Ketoacidosis Insulin-resistant diabetes mellitus Protuberant abdomen Ovarian neoplasm Flat occiput Absent eyebrow Clitoral hypertrophy Fasting hypoglycemia Precocious puberty Hyperinsulinemia Acanthosis nigricans Preauricular skin tag Insulin resistance Hypertrichosis Epidermal acanthosis Thick nail Long penis Specific learning disability Onychauxis Macrotia Absent speech Hypertonia Diarrhea Vomiting Blindness Hyperreflexia Abnormality of upper lip Advanced eruption of teeth Postprandial hyperglycemia Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Microdontia Sepsis Abnormality of the eye Cerebral calcification Agenesis of corpus callosum Plantar pits Palmar pits Vertebral wedging Abnormality of the sense of smell Melanocytic nevus Hypogonadotrophic hypogonadism Carious teeth Sleep disturbance Glaucoma Hydrocephalus Brachydactyly Cataract Peripheral demyelination Brain atrophy Ataxia Sparse hair Hypotelorism Abdominal distention Retrognathia Microcornea High, narrow palate Hirsutism Dry skin Wide mouth Hypoglycemia Coarse facial features Dyspnea Low posterior hairline Respiratory failure Myopia Turricephaly Overweight Large hands Obsessive-compulsive behavior Stereotypy Muscular hypotonia of the trunk Abnormality of the pinna Corpus callosum atrophy Decreased palmar creases Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Congenital finger flexion contractures Round ear Keratoglobus Ulnar deviation of the wrist Exophoria Duane anomaly Unilateral ptosis Retinal fold Tapetoretinal degeneration Abnormality of the rib cage Overlapping fingers Hypoventilation Firm muscles Internally rotated shoulders Ulnar deviation of finger Coarctation of aorta Cortical gyral simplification Hypoplastic left heart Hypoalbuminemia Lissencephaly Hypocalcemia Leukodystrophy Postnatal microcephaly Oligohydramnios Delayed speech and language development Sloping forehead Convex nasal ridge Ichthyosis Microphthalmia Edema Anteverted nares Intrauterine growth retardation Aplasia/Hypoplasia of the radius Keratoconus Severe global developmental delay Type I transferrin isoform profile Hyperlordosis Areflexia Congestive heart failure Hypertension Sensorineural hearing impairment Food intolerance Clinodactyly of the 5th toe Portal fibrosis Retinopathy Decreased light- and dark-adapted electroretinogram amplitude Villous atrophy Severe vision loss Abnormality of vision Small nail Hypsarrhythmia Nail dysplasia Joint stiffness Ophthalmoplegia Abnormality of the sternum Bilateral ptosis Tarsal synostosis Vertebral segmentation defect Restrictive ventilatory defect Macular dystrophy Decreased muscle mass Bilateral talipes equinovarus Mask-like facies Abnormal electroretinogram Abnormality of eye movement Bilateral single transverse palmar creases Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Wide intermamillary distance Webbed neck Abnormality of the foot Palmoplantar cutis gyrata


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