Epicanthus, and Retinoblastoma

Diseases related with Epicanthus and Retinoblastoma

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


Top matches:

High match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Low match LEGIUS SYNDROME


Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

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Other less relevant matches:

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Low match DIAPHANOSPONDYLODYSOSTOSIS


Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Low match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Low match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Top 5 symptoms//phenotypes associated to Epicanthus and Retinoblastoma

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nephroblastoma Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Microcephaly Micrognathia Abnormal facial shape Short nose Low-set ears Neoplasm Ventricular septal defect Macrocephaly Growth delay Ptosis Muscular hypotonia Cataract Cryptorchidism Generalized hypotonia Short stature Hearing impairment Midface retrusion Micropenis Leukemia Enlarged kidney Malar flattening Strabismus Large for gestational age Cleft palate High forehead Cafe-au-lait spot Depressed nasal bridge Long philtrum Wide nasal bridge Intrauterine growth retardation Seizures Renal cyst Brachycephaly Webbed neck

Rare Symptoms - Less than 30% cases


Lisch nodules Low posterior hairline Multiple cafe-au-lait spots Freckling Axillary freckling Respiratory distress Rhabdomyosarcoma Neurofibromas Specific learning disability Hyperactivity Oligohydramnios Sensorineural hearing impairment Atrial septal defect Tall stature Talipes equinovarus Medulloblastoma Macroglossia Overgrowth Hyperpigmentation of the skin Renal dysplasia Small for gestational age Posteriorly rotated ears Postnatal growth retardation Anemia Failure to thrive Ventriculomegaly Hydrocephalus Umbilical hernia Telecanthus Acute lymphoblastic leukemia Inguinal hernia Abnormality of the ribs Microphthalmia Broad forehead Coloboma Prominent nose Protruding ear Single transverse palmar crease Abnormal heart morphology Clinodactyly Hernia Multiple renal cysts Abnormality of cardiovascular system morphology Prominent nasal bridge Brachydactyly Deeply set eye Nystagmus Delayed speech and language development High palate Trigonocephaly Short philtrum Hematuria Neonatal hypoglycemia Delayed puberty Abdominal distention Abnormality of the ureter Obesity Autistic behavior Hypothyroidism Abnormality of the outer ear Full cheeks Abnormality of the face Facial asymmetry Premature birth Cardiomegaly Autism Downturned corners of mouth Synophrys Mandibular prognathia Cutaneous syndactyly between fingers 2 and 5 Splenomegaly Patent ductus arteriosus Multiple exostoses Proptosis Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Decreased skull ossification Depressed nasal tip Exostoses Abnormality of the dentition Turricephaly Aniridia Self-injurious behavior Polyhydramnios Sparse eyebrow Cutaneous syndactyly Wormian bones Abnormality of the genital system Underdeveloped nasal alae Broad nasal tip Jaundice Abnormality of the kidney Hepatomegaly Delayed eruption of teeth Nevus flammeus Ambiguous genitalia Immunodeficiency Hypospadias Cerebellar hypoplasia Agenesis of corpus callosum Upslanted palpebral fissure Feeding difficulties in infancy Muscular dystrophy Severe global developmental delay Generalized tonic-clonic seizures Wide nose Generalized myoclonic seizures Dandy-Walker malformation Amenorrhea Intellectual disability, profound Cardiac fibroma Primary amenorrhea Sarcoma Myelodysplasia Limb-girdle muscular dystrophy Bifid scrotum Combined immunodeficiency Severe intrauterine growth retardation Acute leukemia Mild microcephaly Short sternum Triangular mouth Cerebral hypoplasia Premature chromatid separation Embryonal rhabdomyosarcoma Anteverted nares Odontogenic keratocysts of the jaw Capillary hemangioma Pectus excavatum Abnormal eyebrow morphology Diastasis recti Mild global developmental delay Hemihypertrophy Visceromegaly Abdominal wall defect Asymmetry of the thorax Anterior creases of earlobe Hemifacial hypertrophy Posterior helix pit Auricular pit Congenital megaureter Feeding difficulties Kyphosis Polydactyly Plantar pits Narrow mouth Retinopathy Joint hyperflexibility Oral cleft Behavioral abnormality Accelerated skeletal maturation Arnold-Chiari malformation Basal cell carcinoma Abnormality of the vertebral column Metopic synostosis Palmar pits Calcification of falx cerebri Ovarian fibroma Thickened ears Syndactyly Renal malrotation Myopia Muscle weakness Anteverted ears Leukocoria Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder Abnormality of skin pigmentation High, narrow palate Triangular face Multiple lipomas Abnormality of the sternum Neoplasm of the lung Scoliosis Pulmonic stenosis Abnormality of the gastrointestinal tract Wide intermamillary distance Relative macrocephaly Cubitus valgus Broad neck Secundum atrial septal defect Superior pectus carinatum Prominent nasolabial fold Optic nerve glioma Pectus excavatum of inferior sternum Inguinal freckling Anal atresia Short thumb Thickened helices Aplasia/Hypoplasia of the thumb Acute myeloid leukemia Thin vermilion border Cognitive impairment Frontal bossing Hypoplasia of the corpus callosum Intellectual disability, severe Clinodactyly of the 5th finger Thin upper lip vermilion Hydronephrosis Muscular hypotonia of the trunk Wide mouth Finger syndactyly Hip dislocation Dolichocephaly Bulbous nose Absent septum pellucidum Thick eyebrow Iris coloboma Everted lower lip vermilion Hypotelorism Open mouth Wide anterior fontanel Finger clinodactyly Holoprosencephaly Abnormal dermatoglyphics Deep philtrum Patent foramen ovale Supernumerary nipple Bone marrow hypocellularity Neuroblastoma Hypertension Enlarged thorax Hammertoe Short thorax Thoracic hypoplasia Vertebral segmentation defect Protuberant abdomen Tracheomalacia Bell-shaped thorax Myelomeningocele Missing ribs Hypoplastic fingernail Disproportionate short-trunk short stature Cystic renal dysplasia Increased nuchal translucency Depressed nasal ridge Narrow pelvis bone Abnormal vertebral segmentation and fusion Absent or minimally ossified vertebral bodies Nephroblastomatosis Unossified vertebral bodies Nephrogenic rest Abnormal liver lobulation Lumbosacral meningocele Absent in utero rib ossification Unossified sacrum Absent in utero ossification of vertebral bodies Intralobar nephroblastomatosis Large fontanelles Small nail Chromosome breakage Round face Aplastic anemia Acute monocytic leukemia Embryonal neoplasm Chromosomal breakage induced by crosslinking agents Abnormality of the skeletal system Intellectual disability, mild Macrotia Pes planus Talipes Astigmatism Thick vermilion border Neutropenia Intestinal malrotation Pulmonary hypoplasia Mitral valve prolapse Spina bifida Spina bifida occulta Large hands Bowing of the legs Long foot Varicose veins Retinal coloboma Long hallux Bifid ureter Respiratory insufficiency Polymicrogyria Hypodysplasia of the corpus callosum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Congenital diaphragmatic hernia, related diseases and genetic alterations Delayed speech and language development and Hypoglycemia, related diseases and genetic alterations Hydrocephalus and Camptodactyly, related diseases and genetic alterations

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