Epicanthus, and Pheochromocytoma

Diseases related with Epicanthus and Pheochromocytoma

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

Top matches:

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

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

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

Other less relevant matches:

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

Low match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

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

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match FRONTORHINY

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

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

Top 5 symptoms//phenotypes associated to Epicanthus and Pheochromocytoma

Symptoms // Phenotype % cases
Ptosis Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Neurofibromas Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Low posterior hairline Cataract Low-set ears Intellectual disability Low-set, posteriorly rotated ears Atrial septal defect Ventricular septal defect Cafe-au-lait spot High palate Pectus excavatum Cryptorchidism Scoliosis Short stature Abnormal facial shape Strabismus Micrognathia Posteriorly rotated ears Global developmental delay Leukemia Postnatal growth retardation Microphthalmia Iris coloboma Feeding difficulties Hyperactivity Macrocephaly Neuroblastoma Kyphosis Arnold-Chiari malformation Pulmonic stenosis Proptosis Brachydactyly Patent ductus arteriosus Muscular hypotonia High, narrow palate Hypoplasia of the maxilla Generalized hypotonia Medulloblastoma Bicuspid aortic valve Microcephaly Seizures Growth delay

Rare Symptoms - Less than 30% cases

Sleep apnea Cleft palate Cranium bifidum occultum Camptodactyly of finger Lipoma of corpus callosum Narrow palate Nephroblastoma Preauricular skin tag Finger clinodactyly Widow's peak Sensorineural hearing impairment Superior pectus carinatum Axillary freckling Lisch nodules Telecanthus Multiple cafe-au-lait spots Freckling Webbed neck Wide intermamillary distance Specific learning disability Triangular face Cubitus valgus Pectus excavatum of inferior sternum Joint hyperflexibility Arnold-Chiari type I malformation Pain Abnormality of the vertebral column Long philtrum Hernia Kyphoscoliosis Umbilical hernia Conductive hearing impairment Tethered cord Intellectual disability, mild Rhabdomyosarcoma Malar flattening Dental crowding Depressed nasal bridge Frontal bossing Polyhydramnios Hypertrophic cardiomyopathy Narrow mouth Polydactyly Broad forehead Agenesis of corpus callosum Constipation Abnormal heart morphology Joint hypermobility Abnormality of the dentition Gastroesophageal reflux Dental malocclusion Hypertension Delayed speech and language development Wide nasal bridge Hearing impairment Failure to thrive Mitral regurgitation Abnormality of cardiovascular system morphology Tall stature Coarctation of aorta Sparse hair Hypogonadism Abdominal pain Joint swelling Rod-cone dystrophy Clinodactyly Abnormal cardiac septum morphology Facial asymmetry Hypotrichosis Cerebral palsy Palpebral edema Bruising susceptibility Abdominal distention Abnormal bleeding Growth hormone excess Generalized hyperpigmentation Widely spaced teeth Impotence Large hands Amenorrhea Acne Growth abnormality Spinal canal stenosis Short thumb Broad foot Abnormality of reproductive system physiology Galactorrhea Deep plantar creases Embryonal neoplasm Pituitary prolactin cell adenoma Dysmenorrhea Macrodactyly Broad jaw Acute monocytic leukemia Paraganglioma Aplastic anemia Chromosome breakage Acute myeloid leukemia Cortical diaphyseal thickening of the upper limbs Anemia Bone marrow hypocellularity Small for gestational age Hyperpigmentation of the skin Hypersomnia Chromosomal breakage induced by crosslinking agents Thrombocytopenia Congestive heart failure Anal atresia Headache Abnormal toenail morphology Splenomegaly Abnormality of the endocrine system Dysuria Neoplasm of the endocrine system Deep palmar crease Nystagmus Anterior hypopituitarism Vomiting Edema Cardiomyopathy Fever Myopia Long penis Cognitive impairment Dilatation Atrial flutter Ventricular hypertrophy Underdeveloped nasal alae Wide nasal base Bifid nose Eyelid coloboma Facial cleft Absent eyebrow Sparse eyebrow Sparse eyelashes Recurrent pneumonia Tetralogy of Fallot Cleft lip Caudal appendage Brachycephaly Hypoplasia of the corpus callosum Basal encephalocele Midline nasal groove Congenital conductive hearing impairment Dermoid cyst Hypoplastic frontal sinuses Bifid tongue Hypopituitarism Upper eyelid coloboma Prominent glabella Aplasia/Hypoplasia of the corpus callosum Trigonocephaly Odontogenic keratocysts of the jaw Plantar pits Thickened ears Ovarian fibroma Calcification of falx cerebri Palmar pits Metopic synostosis Basal cell carcinoma Large for gestational age Accelerated skeletal maturation Hypoplasia of the frontal bone Abnormality of the ribs Delayed eruption of teeth Oral cleft Retinopathy Short nose Hydrocephalus Ventriculomegaly Aplasia/Hypoplasia of the frontal sinuses Pectoral muscle hypoplasia/aplasia Diabetes insipidus Encephalocele Primary amenorrhea Patent foramen ovale Gonadal dysgenesis Abnormality of blood and blood-forming tissues Male infertility Cystic hygroma Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Myelodysplasia Failure to thrive in infancy Drusen Elevated alkaline phosphatase Pterygium Poor suck Azoospermia Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Clumsiness Malignant hyperthermia Nonimmune hydrops fetalis Lumbar hyperlordosis Reduced factor XII activity Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Amegakaryocytic thrombocytopenia Abnormality of the fingernails Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Acanthosis nigricans Atresia of the external auditory canal Generalized hirsutism Poor coordination Meningioma Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Obstructive sleep apnea Self-mutilation Patellar dislocation Overweight Flared iliac wings Shawl scrotum Dislocated radial head Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Dyslexia Abnormality of refraction Spina bifida occulta Frontal upsweep of hair Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Bimanual synkinesia Avascular necrosis of the capital femoral epiphysis Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Phonophobia Broad distal phalanx of finger Nasolacrimal duct obstruction Abnormal cornea morphology Recurrent upper respiratory tract infections Low anterior hairline Large foramen magnum Delayed skeletal maturation Deeply set eye EEG abnormality Thin upper lip vermilion Pes planus Retrognathia Autism Glaucoma Clinodactyly of the 5th finger Arrhythmia Intellectual disability, moderate Hypospadias Immunodeficiency Syndactyly Behavioral abnormality Respiratory distress Dysphagia Hyperreflexia Flexion contracture Joint laxity Abnormality of the kidney Wide anterior fontanel Prominent nose Exotropia Stereotypy Long eyelashes Hypoplasia of dental enamel Broad thumb Aganglionic megacolon Convex nasal ridge Otitis media Recurrent fractures Feeding difficulties in infancy Single transverse palmar crease Highly arched eyebrow Hirsutism Thick eyebrow Unsteady gait Coloboma Respiratory tract infection Abnormality of the pinna Agoraphobia Narrow maxilla Hoarse voice Abnormality of the rib cage Abnormality of the middle ear ossicles Dural ectasia Large sella turcica Sclerosis of skull base Biconcave vertebral bodies Platybasia Low back pain Generalized osteosclerosis Craniofacial hyperostosis Short nasal bridge Osteolytic defects of the phalanges of the hand Meningocele Arachnoid cyst Syringomyelia Prominent metopic ridge Thickened calvaria Slender long bone Vertebral fusion Basilar impression Fatigue Nasal speech Long face Thickened skin Osteoarthritis Thick lower lip vermilion Migraine Full cheeks Macroglossia Tapered finger Wide nose Paresthesia Depressivity Synophrys Anxiety Coarse facial features Arthralgia Macrotia Mandibular prognathia Diabetes mellitus Hyperhidrosis Back pain Coarse hair Premature thelarche Abnormality of skin pigmentation Broad neck Acute lymphoblastic leukemia Relative macrocephaly Midface retrusion Muscle weakness Neoplasm of the lung Abnormality of the sternum Multiple lipomas Attention deficit hyperactivity disorder Prominent nasolabial fold Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Secundum atrial septal defect Optic nerve glioma Osteolysis Smooth philtrum Microretrognathia Wormian bones Increased bone mineral density Narrow face Abnormal vertebral morphology Abnormal form of the vertebral bodies Abnormality of the skin Urinary incontinence Dolichocephaly Inguinal freckling Scarring Hyperlordosis Apnea Hydronephrosis Inguinal hernia Abnormality of the skeletal system Gait disturbance Peripheral neuropathy Motor delay Cardiac fibroma


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