Motor delay, and Pheochromocytoma

Diseases related with Motor delay and Pheochromocytoma

In the following list you will find some of the most common rare diseases related to Motor delay 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

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Other less relevant 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

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

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

DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A Is also known as dfnb84|deafness, autosomal recessive 84a, with vestibular dysfunction|deafness, autosomal recessive 84

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Motor delay
  • Vestibular dysfunction


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A

Top 5 symptoms//phenotypes associated to Motor delay and Pheochromocytoma

Symptoms // Phenotype % cases
Neurofibromas Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Abnormal facial shape Global developmental delay Short stature High palate Hearing impairment Dysphagia Kyphoscoliosis Cryptorchidism Muscle weakness Proptosis Cafe-au-lait spot Peripheral neuropathy Arrhythmia Pectus excavatum Bicuspid aortic valve Abnormality of the skeletal system Pain Muscular hypotonia Aganglionic megacolon

Rare Symptoms - Less than 30% cases

Patent ductus arteriosus Coarctation of aorta Gait disturbance Sensorineural hearing impairment Overgrowth Leukemia Feeding difficulties Lymphoma Recurrent fractures Facial asymmetry Pulmonic stenosis Hypertrophic cardiomyopathy Respiratory tract infection Glaucoma Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Joint hypermobility Back pain Sleep apnea Ventricular septal defect Limb muscle weakness Hernia Inguinal hernia Proximal muscle weakness Dural ectasia Leiomyosarcoma Skeletal muscle atrophy Microcephaly Apnea Nasolacrimal duct obstruction Rhabdomyosarcoma Distal muscle weakness Paraganglioma Growth delay Downslanted palpebral fissures Failure to thrive Distal sensory impairment Micrognathia Peripheral demyelination Meningioma Low-set ears Flexion contracture Behavioral abnormality Overweight Epicanthus Decreased nerve conduction velocity Hyperreflexia Intellectual disability, mild Autism Blindness Abnormality of the skin Neuroma Low posterior hairline Mitral regurgitation Dental crowding Cardiomyopathy Lisch nodules Tethered cord Neoplasm of the endocrine system Narrow palate Freckling Polyneuropathy Inguinal freckling High, narrow palate Thick eyebrow Hyperlordosis Joint laxity Carcinoma Pes cavus Constipation Visual loss Kyphosis Diarrhea Myopathy Subcutaneous neurofibromas Abnormality of the dentition Delayed speech and language development Hypertension Hydrocephalus Respiratory insufficiency Iris coloboma Hypertelorism Cognitive impairment Intellectual disability Visual impairment Myoclonus Capillary hemangioma Low hanging columella Radial deviation of thumb terminal phalanx Dyscalculia Hypoplastic iliac wing Chorioretinal dystrophy Agoraphobia Large foramen magnum Short attention span Respiratory failure Bifid uterus Acidosis Flared iliac wings Neonatal hypotonia Vascular ring Developmental regression Retinopathy Dilated cardiomyopathy Ophthalmoplegia Lactic acidosis Tetraplegia Generalized muscle weakness Generalized myoclonic seizures Increased serum lactate Pigmentary retinopathy Duplication of phalanx of hallux Dyslexia Abnormality of refraction Dementia Abnormality of the cervical spine Prominent fingertip pads Plantar crease between first and second toes Abnormal number of teeth Frontal upsweep of hair High axial triradius Keloids Bimanual synkinesia Papillary cystadenoma of the epididymis Ataxia Nystagmus Enlarged tonsils Spasticity Short upper lip Parietal foramina Optic atrophy Duane anomaly Broad distal phalanx of finger Babinski sign Avascular necrosis of the capital femoral epiphysis Medulloblastoma Abnormal cornea morphology Narrow maxilla Premature thelarche Phonophobia Vomiting Absent speech Deviated nasal septum Dystonia Talon cusp Congestive heart failure Hypertonia Facial grimacing Foot dorsiflexor weakness Spastic tetraplegia Urinary incontinence Coarse hair Arnold-Chiari malformation Osteolysis Microretrognathia Wormian bones Increased bone mineral density Narrow face Abnormal vertebral morphology Abnormal form of the vertebral bodies Smooth philtrum Nasal speech Joint hyperflexibility Dolichocephaly Scarring Telecanthus Hydronephrosis Conductive hearing impairment Umbilical hernia Posteriorly rotated ears Malar flattening Atresia of the external auditory canal Vertebral fusion Short neck Low back pain Facial palsy Fatigue Short nasal bridge Basilar impression Abnormality of the middle ear ossicles Large sella turcica Sclerosis of skull base Biconcave vertebral bodies Platybasia Generalized osteosclerosis Slender long bone Abnormality of the rib cage Craniofacial hyperostosis Osteolytic defects of the phalanges of the hand Meningocele Arachnoid cyst Arnold-Chiari type I malformation Syringomyelia Prominent metopic ridge Thickened calvaria Long philtrum Hand muscle atrophy Leukodystrophy Ketonuria Areflexia Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Left ventricular noncompaction Preeclampsia Abnormality of the foot Ketosis Rhabdomyolysis Oral-pharyngeal dysphagia Easy fatigability Ragged-red muscle fibers Leukoencephalopathy External ophthalmoplegia Exercise intolerance Congenital hip dislocation Hyporeflexia Distal amyotrophy Cold-induced muscle cramps Hodgkin lymphoma Progressive distal muscular atrophy Abnormal nervous system electrophysiology Myelin outfoldings Hypertrophic nerve changes Ulnar claw Axonal regeneration Hypopnea Segmental peripheral demyelination/remyelination Demyelinating peripheral neuropathy Onion bulb formation Sensory neuropathy Axonal loss Decreased number of peripheral myelinated nerve fibers Decreased motor nerve conduction velocity Steppage gait Hammertoe Delayed gross motor development Self-mutilation Progressive muscle weakness Split hand Delayed myelination Obstructive sleep apnea Narrow mouth Patellar dislocation Atherosclerosis Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Sarcoma Incoordination Breast carcinoma Reduced bone mineral density Venous thrombosis Spina bifida Pulmonary fibrosis Sensorimotor neuropathy Bone pain Hypsarrhythmia Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Hypophosphatemia Tibial bowing Peripheral axonal neuropathy Parathyroid adenoma Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Carcinoid tumor Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Aqueductal stenosis Multiple cafe-au-lait spots Astrocytoma Brain neoplasm Myocardial fibrosis Gangrene Increased reactive oxygen species production Severe vision loss Renal cell carcinoma Osteomalacia Abnormality of skin pigmentation Paresthesia Gastrointestinal stroma tumor Disproportionate tall stature Schizencephaly Ganglioneuroma Colonic diverticula Medullary thyroid carcinoma Parathyroid hyperplasia Thyroid carcinoma Achalasia Flushing Acne Nodular goiter Failure to thrive in infancy Goiter Subcutaneous nodule Hemiparesis Thick lower lip vermilion Thick vermilion border Photophobia Coarse facial features Elevated calcitonin Abnormality of the parathyroid gland Genu valgum Osteoporosis Malabsorption Pruritus Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypoglycemia Osteopenia Weight loss Depressivity Proximal femoral epiphysiolysis Dilatation Headache Macrocephaly Dysarthria Anemia Multiple mucosal neuromas Ganglioneuromatosis Prominent corneal nerve fibers Elevated urinary epinephrine Neoplasm of the central nervous system Fibular bowing Poor coordination Feeding difficulties in infancy Hypoplasia of the maxilla Single transverse palmar crease Highly arched eyebrow Hirsutism Unsteady gait Coloboma Postnatal growth retardation Abnormality of the pinna Abnormality of the kidney Prominent nose Intellectual disability, moderate Deeply set eye EEG abnormality Thin upper lip vermilion Pes planus Retrognathia Gastroesophageal reflux Polyhydramnios Dental malocclusion Otitis media Agenesis of corpus callosum Laryngomalacia Shawl scrotum Neuroblastoma Dislocated radial head Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Recurrent upper respiratory tract infections Convex nasal ridge Spina bifida occulta Low anterior hairline Wide anterior fontanel Exotropia Stereotypy Long eyelashes Hypoplasia of dental enamel Broad thumb Polydactyly Clinodactyly of the 5th finger Epigastric pain Optic nerve glioma Nephroblastoma Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Plexiform neurofibroma Acute promyelocytic leukemia Neurofibrosarcoma Multiple lipomas Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Skeletal muscle hypertrophy Impaired pain sensation Delayed skeletal maturation Strabismus Hypospadias Immunodeficiency Syndactyly Atrial septal defect Respiratory distress Frontal bossing Wide nasal bridge Cataract Hemiareflexia Increased circulating cortisol level Hemifacial hypertrophy Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Hemihypertrophy Communicating hydrocephalus Myelomeningocele Vestibular dysfunction


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