High palate, and Pheochromocytoma

Diseases related with High palate and Pheochromocytoma

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

Top matches:

Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

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

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

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Top 5 symptoms//phenotypes associated to High palate and Pheochromocytoma

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Neurofibromas Hearing impairment Epicanthus Low-set ears Global developmental delay Hypertelorism Downslanted palpebral fissures Low posterior hairline High, narrow palate Cryptorchidism Cataract Proptosis Short neck Feeding difficulties Microcephaly Neoplasm Kyphosis Short stature Intellectual disability, mild Narrow mouth Ventricular septal defect Hypothyroidism Patent ductus arteriosus Abnormal heart morphology Hypoplasia of the maxilla Depressed nasal bridge Neuroblastoma Meningioma Colonic diverticula Low-set, posteriorly rotated ears Motor delay Hernia Posteriorly rotated ears Myopia Bicuspid aortic valve Long philtrum Pain Goiter Abnormality of the skin Muscular hypotonia Constipation Cafe-au-lait spot

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Postnatal growth retardation Abnormality of the pinna Congestive heart failure Thin upper lip vermilion Tethered cord Inguinal hernia Pulmonic stenosis Gastroesophageal reflux Polyhydramnios Kyphoscoliosis Umbilical hernia Hyperactivity Telecanthus Apnea Leukemia Iris coloboma Joint hypermobility Joint laxity Hyperlordosis Clumsiness Thick eyebrow Wide intermamillary distance Impulsivity Laryngomalacia Narrow palate Dental crowding Aganglionic megacolon Hypoplasia of dental enamel Attention deficit hyperactivity disorder Triangular face Coarctation of aorta Hypoplasia of the corpus callosum Dental malocclusion Upslanted palpebral fissure Abnormality of cardiovascular system morphology Fibroadenoma of the breast Edema Hypospadias Thyroiditis Hydrocele testis Arnold-Chiari malformation Strabismus Freckling Skin tags Growth delay Hashimoto thyroiditis Hyperthyroidism Lisch nodules Palmoplantar hyperkeratosis Breast carcinoma Gynecomastia Transitional cell carcinoma of the bladder Abnormality of the cardiovascular system Arnold-Chiari type I malformation Abnormality of the skeletal system Failure to thrive in infancy Intention tremor Varicocele Wide nasal bridge Atrial septal defect Angioid streaks of the fundus Subcutaneous lipoma Dysphagia Progressive macrocephaly Thyroid adenoma Hamartomatous polyposis Ovarian cyst Furrowed tongue Delayed speech and language development Ventricular hypertrophy Amenorrhea Primary amenorrhea Muscle weakness Fatigue Left ventricular hypertrophy Amblyopia Webbed neck Lymphedema Vomiting Poor suck Plagiocephaly Azoospermia Abdominal distention Short nasal bridge Pterygium Elevated alkaline phosphatase Patent foramen ovale Myelodysplasia Cubitus valgus Radial deviation of finger Abnormality of the coagulation cascade Abnormal bleeding Limb muscle weakness Bruising susceptibility Hypogonadism Splenomegaly Cardiomyopathy Fever Headache Dilatation Thrombocytopenia Brachydactyly Clinodactyly Rod-cone dystrophy Cognitive impairment Abdominal pain Respiratory insufficiency Nystagmus Hypertrophic cardiomyopathy Sparse hair Myopathy Abnormal cardiac septum morphology Leukocytosis Broad forehead Hypotrichosis Facial asymmetry Facial palsy Parathyroid hyperplasia Optic disc hypoplasia Abnormality of color vision Severe global developmental delay Hypertrichosis Short palpebral fissure Dandy-Walker malformation Febrile seizures Nevus Full cheeks Microcornea Flat face Microtia Thickened skin Retinopathy Blepharophimosis High forehead Brachycephaly Microphthalmia Cleft palate Ganglioneuroblastoma Pontocerebellar atrophy Inverted nipples Abnormality of the face Generalized hirsutism Paraparesis Irregular hyperpigmentation Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Hypoplastic nipples Cutis laxa Hamartoma Cerebellar vermis atrophy Abnormality of the musculature Long fingers Overlapping toe Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Scrotal hypoplasia Hyperbilirubinemia Bradycardia Cystic hygroma Synovitis Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Abnormality of the middle ear ossicles Asymmetry of the thorax Multiple lentigines Schwannoma Shield chest Neurofibrosarcoma Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Abnormality of the vertebral column Male infertility Reduced factor XII activity Panuveitis Postnatal microcephaly Hydrocephalus Open mouth Apraxia Delayed myelination Inability to walk Generalized tonic-clonic seizures Protruding ear Hypoglycemia Absent speech Anteverted nares Juvenile myelomonocytic leukemia Spasticity Ataxia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Basilar impression Osteolysis Dural ectasia Single transverse palmar crease Broad thumb Mitral regurgitation Polyneuropathy Convex nasal ridge Otitis media Prominent nose Recurrent fractures Highly arched eyebrow Stereotypy Hirsutism Unsteady gait Coloboma Respiratory tract infection Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Deeply set eye Long eyelashes Exotropia Pes planus Shawl scrotum Hypoplastic iliac wing Low hanging columella Capillary hemangioma Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Overweight Dislocated radial head Wide anterior fontanel Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Recurrent upper respiratory tract infections Thick vermilion border Spina bifida occulta Low anterior hairline EEG abnormality Retrognathia Dyslexia Elevated urinary epinephrine Neoplasm of the endocrine system Achalasia Thyroid carcinoma Multiple mucosal neuromas Ganglioneuromatosis Prominent corneal nerve fibers Inguinal freckling Subcutaneous neurofibromas Failure to thrive Neuroma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Ganglioneuroma Medullary thyroid carcinoma Flushing Disproportionate tall stature Autism Immunodeficiency Thick lower lip vermilion Polydactyly Glaucoma Agenesis of corpus callosum Clinodactyly of the 5th finger Delayed skeletal maturation Hemiparesis Arrhythmia Syndactyly Acne Behavioral abnormality Abnormality of the dentition Respiratory distress Subcutaneous nodule Frontal bossing Hyperreflexia Hypertension Flexion contracture Short attention span Flared iliac wings Large sella turcica Dolichocephaly Increased bone mineral density Narrow face Abnormal vertebral morphology Abnormal form of the vertebral bodies Urinary incontinence Smooth philtrum Joint hyperflexibility Scarring Microretrognathia Hydronephrosis Conductive hearing impairment Diarrhea Visual loss Malar flattening Gait disturbance Peripheral neuropathy Pes cavus Wormian bones Sleep apnea Axillary freckling Meningocele Sclerosis of skull base Biconcave vertebral bodies Platybasia Low back pain Generalized osteosclerosis Abnormality of the rib cage Craniofacial hyperostosis Osteolytic defects of the phalanges of the hand Arachnoid cyst Coarse hair Syringomyelia Prominent metopic ridge Thickened calvaria Slender long bone Vertebral fusion Back pain Nasal speech Atresia of the external auditory canal Coarse facial features Neoplasm of the lung Abnormality of refraction Parietal foramina Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Abnormality of the cervical spine Vascular ring Facial grimacing Phonophobia Broad distal phalanx of finger Rhabdomyosarcoma Nasolacrimal duct obstruction Abnormal cornea morphology Medulloblastoma Avascular necrosis of the capital femoral epiphysis Duplication of phalanx of hallux Bifid uterus Multiple cafe-au-lait spots Radial deviation of thumb terminal phalanx Abnormality of the sternum Multiple lipomas Specific learning disability Abnormality of skin pigmentation Photophobia Carcinoma Macrocephaly Plantar crease between first and second toes Abnormal number of teeth Agoraphobia High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Localized neuroblastoma


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