Brachydactyly, and Pheochromocytoma

Diseases related with Brachydactyly and Pheochromocytoma

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


Top matches:

Low match PARAGANGLIOMAS 5; PGL5


Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

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

Low match NOONAN SYNDROME 1; NS1


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

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Other less relevant matches:

Low match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


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 PARAGANGLIOMAS 3; PGL3


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

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A


Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (OMIM ), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001).For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A Is also known as pheochromocytoma and amyloid-producing medullary thyroid carcinoma|sipple syndrome|ptc syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Carcinoma
  • Aganglionic megacolon
  • Hyperparathyroidism


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A

Low match CARNEY TRIAD


Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

Low match PARAGANGLIOMAS 4; PGL4


PARAGANGLIOMAS 4; PGL4 Is also known as paraganglioma, familial malignant|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 4; PGL4

Low match TESTICULAR TERATOMA


Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell TumorsA locus for testicular germ cell tumors (TGCT1 ) has been identified on chromosome Xq27.

TESTICULAR TERATOMA Is also known as male germ cell tumor|mgct|teratoma of the testis

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus
  • Abnormality of metabolism/homeostasis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about TESTICULAR TERATOMA

Low match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Top 5 symptoms//phenotypes associated to Brachydactyly and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Paraganglioma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Tachycardia Low-set, posteriorly rotated ears Hyperhidrosis Intellectual disability Carcinoma Ptosis Cleft palate Headache Cataract

Rare Symptoms - Less than 30% cases


Radial deviation of finger Gastrointestinal stroma tumor Azoospermia Hydrocephalus Abdominal pain Facial asymmetry Congestive heart failure Posteriorly rotated ears Abnormal heart morphology Intellectual disability, mild Dilatation Male infertility Clinodactyly Hypertension associated with pheochromocytoma Neuroblastoma Recurrent paroxysmal headache Underdeveloped nasal alae Cleft lip Palpitations Agenesis of corpus callosum Wide nasal bridge Cranial nerve paralysis Adrenal pheochromocytoma Gonadal dysgenesis Pulsatile tinnitus Episodic paroxysmal anxiety High palate Chemodectoma Extraadrenal pheochromocytoma Glomus jugular tumor Downslanted palpebral fissures Sparse hair Low-set ears Camptodactyly of finger Cranium bifidum occultum Seizures Lipoma of corpus callosum Widow's peak Short stature Microcephaly Finger clinodactyly Preauricular skin tag Hypoplasia of the maxilla Micrognathia Bifid tongue Microphthalmia Strabismus Cryptorchidism Pain Hepatic cysts Medullary thyroid carcinoma Upper eyelid coloboma Elevated calcitonin Elevated urinary epinephrine Abnormality of the integument Deviation of finger Anemia Pancreatic cysts Fatigue Arrhythmia Diarrhea Carcinoid tumor Nausea and vomiting Lymphadenopathy Ascites Gastrointestinal hemorrhage Anorexia Pulmonary infiltrates Adrenocortical adenoma Mediastinal lymphadenopathy Parathyroid hyperplasia Parathyroid adenoma Thyroid carcinoma Lobulated tongue Alveolar ridge overgrowth Aplasia/Hypoplasia of the frontal sinuses Vocal cord paralysis Multiple glomerular cysts Gray matter heterotopias Hypothalamic hamartoma Abnormality of toe Pectoral muscle hypoplasia/aplasia Tongue nodules Narrow naris Hoarse voice Hypoplasia of the frontal bone Loss of voice Prominent glabella Elevated circulating catecholamine level Caudal appendage Aganglionic megacolon Hyperparathyroidism Increased circulating cortisol level Upper limb undergrowth Neoplasm of the endocrine system Leiomyosarcoma Renal cell carcinoma Adrenal overactivity Abnormal cortical gyration Telecanthus Ovarian cyst Abnormality of the kidney Abnormality of the cerebral white matter Carious teeth Oral cleft Abnormality of the pancreas Stage 5 chronic kidney disease Postaxial polydactyly Abnormal cerebellum morphology Bifid uvula Hypoplasia of dental enamel Polydactyly Myelomeningocele Arachnoid cyst Hepatic fibrosis Microretrognathia Cutaneous syndactyly Polycystic kidney dysplasia Molar tooth sign on MRI Milia Agenesis of permanent teeth Nephronophthisis Atrioventricular canal defect Increased number of teeth Proteinuria Alopecia Anxiety Dysgerminoma Porencephalic cyst Median cleft lip Paraganglioma of head and neck Elevated urinary catecholamines Dry hair Abnormality of metabolism/homeostasis Infertility Colon cancer Retinoblastoma Teratoma Testicular neoplasm Testicular dysgenesis Vestibular Schwannoma Depressivity Neuroma Choriocarcinoma Testicular microlithiasis Testicular teratoma Hearing impairment Dysarthria Tremor Frontal bossing Abnormality of the dentition Renal insufficiency Bifid nose Syndactyly Wide nasal base Superior pectus carinatum Eyelid coloboma Hypertrophic cardiomyopathy Abnormality of cardiovascular system morphology Thrombocytopenia Hernia Pectus excavatum Patent ductus arteriosus Constipation Rod-cone dystrophy Hypogonadism Proptosis Polyhydramnios Gastroesophageal reflux Kyphoscoliosis Postnatal growth retardation Vomiting Abnormal cardiac septum morphology Broad forehead Leukemia Hypotrichosis Pulmonic stenosis Bruising susceptibility High, narrow palate Triangular face Abdominal distention Abnormal bleeding Dental malocclusion Webbed neck Splenomegaly Edema Amenorrhea Basal encephalocele Vertigo Scoliosis Iris coloboma Lumbar hyperlordosis Encephalocele Aplasia/Hypoplasia of the corpus callosum Diabetes insipidus Hypopituitarism Hypoplastic frontal sinuses Dermoid cyst Congenital conductive hearing impairment Midline nasal groove Global developmental delay Atrial septal defect Growth delay Nystagmus Sensorineural hearing impairment Abnormal facial shape Cognitive impairment Feeding difficulties Depressed nasal bridge Myopia Fever Ventricular septal defect Short neck Cardiomyopathy Wide intermamillary distance Coarctation of aorta Facial cleft Pectus excavatum of inferior sternum Schwannoma Multiple lentigines Asymmetry of the thorax Optic disc hypoplasia Lymphangioma Hypoplastic aortic arch Amegakaryocytic thrombocytopenia Reduced factor XII activity Neurofibrosarcoma Panuveitis Juvenile myelomonocytic leukemia Loose anagen hair Gonadal neoplasm Shield chest Reduced factor XIII activity Nasogastric tube feeding Preductal coarctation of the aorta Postductal coarctation of the aorta Hypoplasia of the corpus callosum Brachycephaly Conductive hearing impairment Tetralogy of Fallot Recurrent pneumonia Sparse eyelashes Sparse eyebrow Absent eyebrow Synovitis Restrictive cardiomyopathy Ventricular hypertrophy Failure to thrive in infancy Low posterior hairline Primary amenorrhea Clumsiness Left ventricular hypertrophy Amblyopia Lymphedema Plagiocephaly Bicuspid aortic valve Arnold-Chiari malformation Poor suck Pterygium Elevated alkaline phosphatase Patent foramen ovale Atrial flutter Myelodysplasia Cubitus valgus Abnormality of the coagulation cascade Leukocytosis Abnormality of color vision Neurofibromas Cystic hygroma Abnormality of the vertebral column Abnormality of blood and blood-forming tissues Arnold-Chiari type I malformation Malignant hyperthermia Drusen Nonimmune hydrops fetalis Trident hand



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Joint hypermobility, related diseases and genetic alterations Abnormality of the skeletal system and Abnormality of the metaphysis, related diseases and genetic alterations Intrauterine growth retardation and Delayed eruption of teeth, related diseases and genetic alterations

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