Cleft palate, and Pheochromocytoma

Diseases related with Cleft palate and Pheochromocytoma

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

Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

Other less relevant matches:

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

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

Low match CARNEY COMPLEX

Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

PARAGANGLIOMAS 3; PGL3 Is also known as glomus tumors, familial, 3

Related symptoms:

  • Hyperhidrosis
  • Tachycardia
  • Palpitations
  • Hoarse voice
  • Cranial nerve paralysis


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 3; PGL3

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Neurofibromas Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertension Cafe-au-lait spot Aganglionic megacolon Carcinoma Proptosis Cryptorchidism Abnormal facial shape Pain Scoliosis

Rare Symptoms - Less than 30% cases

Abnormality of cardiovascular system morphology Neuroma Thyroid carcinoma Hyperhidrosis Dysphagia Hirsutism Leiomyosarcoma Nodular goiter Hypertension associated with pheochromocytoma Leukemia Increased circulating cortisol level Neoplasm of the endocrine system Adrenal pheochromocytoma Histiocytoma Recurrent paroxysmal headache Intellectual disability Hearing impairment Generalized hypotonia Failure to thrive Micrognathia Strabismus Cataract Pectus excavatum Achalasia Polyhydramnios Hydrocephalus Visual loss Diarrhea Myopathy Glaucoma Weight loss Joint laxity Thick eyebrow Abnormality of the dentition Vomiting Tachycardia Bicuspid aortic valve Paraganglioma Cleft upper lip Ptosis Muscular hypotonia Disproportionate tall stature Overgrowth High palate Subcutaneous nodule Abnormality of the liver Intestinal malrotation Ophthalmoplegia Joint stiffness Broad forehead Prominent nasal bridge Round face Narrow chest Arachnodactyly Abdominal distention Vesicoureteral reflux Malnutrition Interphalangeal joint contracture of finger Hydroureter Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Chronic constipation Episodic abdominal pain Hyperparathyroidism Anonychia Recurrent urinary tract infections Hydronephrosis Intestinal obstruction Portal hypertension Hypoalbuminemia External ophthalmoplegia Pancreatitis Horseshoe kidney Low-set, posteriorly rotated ears Sebaceous gland carcinoma Umbilical hernia Inflammatory abnormality of the eye Malar rash Leukocoria Soft tissue sarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Buphthalmos Fibrosarcoma Astrocytoma Acute monocytic leukemia Anemia of inadequate production Osteosarcoma Chromosome breakage Uveitis Acute myeloid leukemia Glioblastoma multiforme Burkitt lymphoma Abdominal pain Pineoblastoma Pneumonia Dilatation Anteverted nares Skeletal muscle atrophy Fever Peripheral neuropathy Neuroblastic tumors Retinal calcification Vitritis Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Urinary retention Liposarcoma Intestinal pseudo-obstruction Adrenocortical adenoma Pollakisuria Osteochondroma Bronchogenic cyst Uterine neoplasm Vestibular Schwannoma Fibroadenoma of the breast Increased urinary cortisol level Pituitary growth hormone cell adenoma Abnormal prolactin level Pancreatic adenocarcinoma Pigmented micronodular adrenocortical disease Thyroid adenoma Adrenocortical carcinoma Testicular neoplasm Pituitary prolactin cell adenoma Neoplasm of the breast Enlarged polycystic ovaries Multiple lentigines Schwannoma Cardiac myxoma Hepatocellular adenoma Hypoplasia of the musculature Hoarse voice Loss of voice Glomus jugular tumor Extraadrenal pheochromocytoma Chemodectoma Episodic paroxysmal anxiety Pulsatile tinnitus Vocal cord paralysis Cranial nerve paralysis Palpitations Blue nevus Intra-oral hyperpigmentation Abnormality of circulating adrenocorticotropin level Thyroid follicular hyperplasia Sertoli cell neoplasm Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Profuse pigmented skin lesions Red hair Stomach cancer Microcolon Inguinal hernia Communicating hydrocephalus Myelomeningocele Impaired pain sensation Multiple lipomas Skeletal muscle hypertrophy Nephroblastoma Facial asymmetry Hernia Myelodysplasia Intellectual disability, mild Megaduodenum Hypoperistalsis Gastrointestinal obstruction Barrett esophagus Urethral obstruction Megacystis Prune belly Hemihypertrophy Asymmetric growth Ovarian cyst Polycystic ovaries Parathyroid adenoma Pituitary adenoma Prolactin excess Neoplasm of the pancreas Growth hormone excess Ovarian neoplasm Colon cancer Hypermelanotic macule Neoplasm of the skin Asymmetry of the thorax Nevus Sudden cardiac death Stroke Congestive heart failure Hemiareflexia Hemifacial hypertrophy Embryonal neoplasm Hepatoblastoma Cellulitis Enlarged tonsils Sarcoma Delayed skeletal maturation Gastroesophageal reflux Autism Narrow mouth Polydactyly Hyperactivity Agenesis of corpus callosum Clinodactyly of the 5th finger Abnormal heart morphology Pes planus Arrhythmia Patent ductus arteriosus Hypospadias Immunodeficiency Syndactyly Behavioral abnormality Atrial septal defect Respiratory distress Retrognathia Thin upper lip vermilion Frontal bossing Unsteady gait Dental malocclusion Hypoplasia of the maxilla Recurrent fractures Single transverse palmar crease Highly arched eyebrow Iris coloboma Joint hypermobility Pulmonic stenosis EEG abnormality Coloboma Respiratory tract infection Postnatal growth retardation Abnormality of the pinna Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Deeply set eye Ventricular septal defect Downslanted palpebral fissures Otitis media Abnormality of the skin Flushing Freckling Acne Failure to thrive in infancy Goiter Hemiparesis Thick lower lip vermilion Polyneuropathy Lisch nodules High, narrow palate Thick vermilion border Hyperlordosis Photophobia Coarse facial features Pes cavus Kyphosis Abnormality of the skeletal system Parathyroid hyperplasia Medullary thyroid carcinoma Wide nasal bridge Ganglioneuromatosis Hyperreflexia Epicanthus Delayed speech and language development Flexion contracture Low-set ears Growth delay Short stature Multiple mucosal neuromas Prominent corneal nerve fibers Colonic diverticula Inguinal freckling Elevated urinary epinephrine Subcutaneous neurofibromas Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Elevated calcitonin Schizencephaly Ganglioneuroma Prominent nose Convex nasal ridge Increased intracranial pressure Chorioretinal dystrophy Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Keloids Deviated nasal septum Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Premature thelarche Talon cusp Phonophobia Blindness Anorexia Lymphoma Postural instability Abnormality of skin pigmentation Skin rash Headache Malar flattening Visual impairment Global developmental delay Anemia Nystagmus Vertigo 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 Tethered cord Broad distal phalanx of finger Coarctation of aorta Low anterior hairline Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Spina bifida occulta Narrow palate Wide anterior fontanel Congenital glaucoma Exotropia Stereotypy Dental crowding Long eyelashes Hypoplasia of dental enamel Broad thumb Mitral regurgitation Low posterior hairline Truncal obesity Dislocated radial head Rhabdomyosarcoma Short attention span Nasolacrimal duct obstruction Abnormal cornea morphology Medulloblastoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Meningioma Hypoplastic iliac wing Neuroblastoma Low hanging columella Capillary hemangioma Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Overweight Shawl scrotum Elevated circulating catecholamine level


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