Epicanthus, and Congenital cataract

Diseases related with Epicanthus and Congenital cataract

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

Top matches:

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Other less relevant matches:

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

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

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

High match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL 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

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Top 5 symptoms//phenotypes associated to Epicanthus and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Micrognathia Wide nasal bridge Flexion contracture Aplasia cutis congenita Sensorineural hearing impairment Low-set ears Abnormality of the dentition Abnormal facial shape Hypertelorism Strabismus High palate Cerebral atrophy Aplasia cutis congenita of scalp Midface retrusion Nystagmus Myopia Severe short stature Intellectual disability, severe Anteverted nares Malar flattening Congenital contracture Hearing impairment Growth delay Visual impairment Flat face Sparse hair Alopecia Scoliosis Polymicrogyria Ventriculomegaly Retinal detachment Depressivity Cleft palate

Rare Symptoms - Less than 30% cases

Cerebellar atrophy Hypertonia Hyperhidrosis Syndactyly Sensory neuropathy Muscular hypotonia of the trunk Abnormal vitreous humor morphology Abnormality of the skeletal system Peripheral neuropathy Muscle weakness Sparse scalp hair Short distal phalanx of finger Dry skin Lens luxation High myopia Visual loss Glaucoma Frontal bossing Hydrocephalus Bulbous nose Ataxia Ectopia lentis Vitreoretinopathy Concave nasal ridge Narrow palpebral fissure Abnormality of the hair Hypohidrosis Vesicoureteral reflux Nail dystrophy Blindness Protruding ear Microtia High forehead Brachydactyly Short nose Long philtrum Epiphyseal stippling Tented upper lip vermilion Dilatation Sparse eyebrow Muscular hypotonia Posteriorly rotated ears Feeding difficulties Upslanted palpebral fissure Brachycephaly Failure to thrive Mandibular prognathia Camptodactyly Rhizomelia Downslanted palpebral fissures Hypoplasia of the corpus callosum Ptosis Food intolerance Polysplenia Persistent lactic acidosis Severe failure to thrive Delayed CNS myelination Sparse body hair Multiple epiphyseal dysplasia Abnormality of the abdominal wall Microvesicular hepatic steatosis Histiocytoid cardiomyopathy Mitochondrial encephalopathy Decreased mitochondrial complex III activity in liver tissue Ectodermal dysplasia Spina bifida occulta Postterm pregnancy Bifid uvula Flared metaphysis Proptosis Proximal tubulopathy Hypoplasia of the maxilla Genu valgum Hypotrichosis Epiphyseal dysplasia Arthralgia Platyspondyly Abnormality of epiphysis morphology Hyperechogenic kidneys Glycosuria Cholangitis Coma Hypertrichosis Tetraparesis Cardiomegaly Pigmentary retinopathy Increased serum lactate Delayed myelination Metabolic acidosis Cholestasis Hepatic failure Lactic acidosis Small for gestational age Retinopathy Developmental regression Feeding difficulties in infancy Calcific stippling of infantile cartilaginous skeleton Hallucinations Hyperphosphaturia Emotional lability Tubulointerstitial nephritis Coronal cleft vertebrae Myoglobinuria Rhabdomyolysis Otitis media Abnormality of the coagulation cascade Nephritis Decreased liver function Brittle hair Bilateral cleft palate Ragged-red muscle fibers Spastic tetraparesis Severe muscular hypotonia Exercise intolerance Aminoaciduria Esotropia Amblyopia Cerebral calcification Oligohydramnios Cerebral palsy Low anterior hairline Lymphedema Wide anterior fontanel Blue sclerae Small nail Wide intermamillary distance Cutis marmorata Gliosis Single transverse palmar crease Short foot Pulmonic stenosis Abnormality of the nervous system Deeply set eye Elevated hepatic transaminase Dermal atrophy Short finger Cerebellar hypoplasia Pain Cerebral cortical atrophy Hernia Cleft lip Abnormality of metabolism/homeostasis Atrial septal defect Respiratory insufficiency Retinal nonattachment Corpus callosum atrophy Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Severe global developmental delay Retinal fold Periventricular leukomalacia Agenesis of corpus callosum Abnormal heart morphology Thick lower lip vermilion Radial bowing Anhidrotic ectodermal dysplasia Congenital diaphragmatic hernia Hypoplastic ilia Thick upper lip vermilion Abnormality of the metaphysis Hypoplasia of the zygomatic bone Pierre-Robin sequence Absent frontal sinuses Thickened calvaria Sparse eyelashes Coxa valga Sparse and thin eyebrow Kyphoscoliosis Recurrent otitis media Osteoarthritis Ulnar bowing Hypoplastic frontal sinuses Ichthyosis Small distal femoral epiphysis Microphthalmia Optic atrophy Pulmonary hypoplasia Macrocephaly Intrauterine growth retardation Delayed speech and language development Meningeal calcification Calcification of falx cerebri Small proximal tibial epiphyses Wide tufts of distal phalanges Limitation of joint mobility Limb undergrowth Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Hypertrophic cardiomyopathy Thin skin Hypoglycemia Thoracic scoliosis Telecanthus Renal insufficiency Hypertension Sinus tachycardia Vertical nystagmus Metaphyseal cupping Generalized amyotrophy Abnormality of the pinna Short femoral neck Metaphyseal irregularity Coxa vara Decreased body weight Broad-based gait Peripheral demyelination Abnormality of the kidney Blepharophimosis Pes cavus Renal hypoplasia Cutaneous syndactyly Abnormality of the fingernails Type I diabetes mellitus Abnormality of the nail Recurrent urinary tract infections Fine hair Hypotelorism Coloboma Renal agenesis Abnormality of the skin Nail dysplasia Delayed eruption of teeth Iris coloboma Finger syndactyly Asthma Hyporeflexia Abnormality of the thorax Nevus Short humerus Abnormality of pelvic girdle bone morphology Large fontanelles Osteopenia Recurrent infections Nevus flammeus Microcornea Limb joint contracture Everted lower lip vermilion Short philtrum Abnormal cardiac septum morphology Hydronephrosis Hypospadias Kyphosis Irregular vertebral endplates Calcific stippling Talipes equinovarus Delayed cranial suture closure Craniofacial asymmetry Broad eyebrow Broad philtrum Shallow orbits Arnold-Chiari type I malformation Pericarditis Mild short stature Stippled calcification proximal humeral epiphyses Radioulnar synostosis Tapered finger Thin vermilion border Smooth philtrum Thin upper lip vermilion Narrow mouth Intellectual disability, mild Abnormality of the urinary system Cupped ear EEG abnormality Acute lymphoblastic leukemia Macular hypoplasia Total anomalous pulmonary venous return Anomalous pulmonary venous return Large forehead Calvarial skull defect Meningocele Occipital encephalocele Lymphangioma Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Dextrocardia Pyloric stenosis Corneal dystrophy Band keratopathy Phthisis bulbi Horizontal nystagmus Cardiomyopathy Coarse facial features Acidosis Dementia Rod-cone dystrophy Encephalopathy Vomiting Skeletal muscle atrophy Cerebellar malformation Hyperreflexia Cognitive impairment Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Macular degeneration Narrow face 2-3 toe syndactyly Eyelid coloboma Small earlobe Pyelonephritis Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Abnormality of the antihelix Bilateral renal hypoplasia Short columella Palpebral edema Hypoplastic nipples Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth Breast aplasia Hypoplastic helices Pachygyria Mental deterioration Encephalocele Progressive visual loss Retinal degeneration Joint hyperflexibility Leukemia Nyctalopia Retrognathia Bilateral camptodactyly Patent ductus arteriosus Motor delay Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Pregnancy exposure


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