Delayed speech and language development, and Pheochromocytoma

Diseases related with Delayed speech and language development and Pheochromocytoma

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


Top matches:

Medium match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

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 rubinstein syndrome, broad thumbs and great toes, characteristic facies, and mental retardation, broad thumb-hallux syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

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, neuromata, mucosal, with endocrine tumors, wagenmann-froboese syndrome, multiple endocrine neoplasia, type iii, formerly;men3, formerly;men2b; multiple endocrine neoplasia type 3; wagenmann-froboese syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET SCTID OMIM UMLS ICD10

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Low match NEUROFIBROMATOSIS, TYPE I; NF1

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 I; NF1 Is also known as neurofibromatosis, peripheral type, von recklinghausen disease;von recklinghausen disease due to nf1 mutation or intragenic deletion

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Pica


SOURCES: ORPHANET ICD10 OMIM

More info about NEUROFIBROMATOSIS, TYPE I; NF1

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Low match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as noonan-neurofibromatosis syndrome, neurofibromatosis with noonan phenotype

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Scoliosis


SOURCES: OMIM ORPHANET

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 Is also known as ;coxpd15

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS ORPHANET OMIM MONDO

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

Low match CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

Approximately 5 to 20% of all patients with neurofibromatosis type I (OMIM ) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB Is also known as neurofibromatosis 1 microdeletion syndrome, nf1 microdeletion syndrome, van asperen syndrome;dup(17)(q11.2); grisart-destrée syndrome; trisomy 17q11.2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: GARD ORPHANET DOID OMIM MONDO

More info about CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

Low match HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). Genetic Heterogeneity of Hyperinsulinemic HypoglycemiaHHF2 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), on chromosome 11p15.1. HHF3 (OMIM ) is caused by mutation in the glucokinase gene (GCK ) on chromosome 7p15-p13. HHF4 (OMIM ) is caused by mutation in the HADH gene (OMIM ) on chromosome 4q22-q26. HHF5 (OMIM ) is caused by mutation in the insulin receptor gene (INSR ) on chromosome 19p13.2. HHF6 (OMIM ) is caused by mutation in the GLUD1 gene (OMIM ) on chromosome 10q23.3. HHF7 (OMIM ) is caused by mutation in the SLC16A1 (OMIM ) on chromosome 1p13.2-p12. There is evidence of further genetic heterogeneity of HHF.

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Is also known as persistent hyperinsulinemic hypoglycemia of infancy;phhi, hypoglycemia, hyperinsulinemic, of infancy, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia, nesidioblastosis of pancreas, hyperinsulinism, familial, with pancreatic nesidioblastosis, hyperinsulinism, congenital

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Pica
  • Milia


SOURCES: OMIM

More info about HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Low match CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.

CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB Is also known as charcot-marie-tooth neuropathy, recessive intermediate b;ri-cmtb;ri-cmt type b

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Peripheral neuropathy
  • Hyporeflexia
  • Areflexia


SOURCES: OMIM UMLS GARD ORPHANET MONDO DOID

More info about CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB

Low match PARAGANGLIOMAS 5; PGL5

Related symptoms:

  • Autosomal dominant inheritance
  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Tachycardia


SOURCES: OMIM MONDO UMLS

More info about PARAGANGLIOMAS 5; PGL5

Low match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment


SOURCES: OMIM UMLS MONDO MESH GARD

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Pheochromocytoma

Symptoms // Phenotype % cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Nevus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

Patients with Delayed speech and language development and Pheochromocytoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Scoliosis Fibroma Ptosis Neurofibromas Cafe-au-lait spot Intellectual disability Milia Autosomal recessive inheritance Lisch nodules Inguinal freckling Pica Macrocephaly Cognitive impairment Generalized hypotonia Low-set ears Pectus excavatum Specific learning disability Axillary freckling Pes cavus Coarse facial features Abnormal heart morphology Abnormal facial shape Freckling Oxycephaly Neoplasm of the endocrine system Strabismus Aganglionic megacolon Subcutaneous neurofibromas Microcephaly Muscular hypotonia Abnormality of cardiovascular system morphology Leukemia Coma Hypertelorism Optic nerve glioma Glioma Pulmonic stenosis Tics Plexiform neurofibroma Hypertension Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Nasolacrimal duct obstruction Patellar dislocation Hypoplasia of dental enamel Spasticity Optic atrophy Meningioma Broad neck Sarcoma Overweight Rhabdomyosarcoma Schwannoma Malar flattening Dysarthria Facial asymmetry Incoordination Attention deficit hyperactivity disorder Hypoglycemia Depressivity Intellectual disability, mild Abnormality of the skeletal system Hydrocephalus Visual impairment Neurofibrosarcoma Low posterior hairline Paraganglioma Carcinoma Visual loss Pain Myopathy Deviated nasal septum Spinal neurofibromas Coarctation of aorta Overgrowth High palate Constipation Iris coloboma Ventricular septal defect Heterogeneous Thin upper lip vermilion Unsteady gait Epicanthus Atrial septal defect Coloboma Joint hypermobility Cryptorchidism Thick eyebrow Downslanted palpebral fissures Hyperactivity Glaucoma Behavioral abnormality Recurrent fractures Hearing impairment Sporadic Joint laxity Micrognathia Proptosis Brain neoplasm Broad forehead Carcinoid tumor Aqueductal stenosis Increased reactive oxygen species production Anomalous pulmonary venous return Dolichocephaly Renal phosphate wasting Parathyroid adenoma Thyroid adenoma Type II diabetes mellitus Mandibular prognathia Leiomyosarcoma Vestibular Schwannoma Hyperhidrosis Tachycardia Ependymoma Renal artery stenosis Vertigo Soft tissue sarcoma Renovascular hypertension Myopia Fibrosarcoma Myocardial fibrosis Dural ectasia Fibular bowing Chronic myelogenous leukemia Neoplasm of the central nervous system Complete atrioventricular canal defect Astrocytoma Dilatation of the cerebral artery Osteoma Precocious puberty Tibial bowing Sensory axonal neuropathy Cortical tubers Hamartoma Patellar subluxation Clitoral hypertrophy Atherosclerosis Squamous cell carcinoma Venous thrombosis Reduced bone mineral density Spina bifida Sensorimotor neuropathy Bone pain Macule Celiac disease Pulmonary fibrosis Astigmatism Psychosis Renal neoplasm Gangrene Cerebral calcification Severe visual impairment Multiple cafe-au-lait spots Osteomalacia Pointed chin Scaphocephaly Intestinal bleeding Abnormality of the musculature Megalencephaly Renal cell carcinoma Back pain Hypophosphatemia Steppage gait Single ventricle Epigastric pain Tetraplegia Wolff-Parkinson-White syndrome Increased CSF lactate Pituitary adenoma Intention tremor Spastic tetraplegia Increased serum lactate Poor speech Hyperglycemia Large for gestational age Abnormality of the cerebral white matter Abnormal pyramidal sign Neonatal hypoglycemia Reduced visual acuity Gait ataxia Abnormality of the cardiovascular system Motor delay Joint hyperflexibility Maternal diabetes Long foot Focal T2 hyperintense basal ganglia lesion Overbite Bifid nose Syncope Thick nasal alae Bone cyst Hyperammonemia Alopecia of scalp Thin vermilion border Macroorchidism Hyperinsulinemia Large hands Sparse eyelashes Abnormality of dental enamel Sparse and thin eyebrow Tall stature Tremor Hyperinsulinemic hypoglycemia Foot dorsiflexor weakness Hypoglycemic coma Fusiform cerebral aneurysm Tibial pseudoarthrosis Acute promyelocytic leukemia Cerebral artery stenosis Arterial fibromuscular dysplasia Pancreatic islet-cell hyperplasia Insulinoma Muscle weakness Primitive neuroectodermal tumor Embryonal rhabdomyosarcoma Hyporeflexia Areflexia Pseudoarthrosis Diabetes mellitus Distal sensory impairment Brow ptosis Depressed nasal bridge Abnormality of the pancreas Acute lymphoblastic leukemia Nystagmus Ataxia Pectus excavatum of inferior sternum Superior pectus carinatum Prominent nasolabial fold Secundum atrial septal defect Fasting hypoglycemia Cubitus valgus Short neck Relative macrocephaly Wide intermamillary distance Webbed neck Telecanthus Posteriorly rotated ears Midface retrusion Hypoglycemic seizures Obesity Abnormality of the parathyroid gland Hypsarrhythmia Stereotypy Broad hallux Encephalitis Recurrent upper respiratory tract infections Laryngomalacia Bicuspid aortic valve Spina bifida occulta Narrow palate Long eyelashes Truncal obesity Low anterior hairline Exotropia Wide anterior fontanel Mitral regurgitation Dental crowding Broad thumb Otitis media Delayed cranial suture closure Impulsivity Prominent nose Low hanging columella Avascular necrosis of the capital femoral epiphysis Broad distal phalanx of finger Abnormality of refraction Medulloblastoma Poor coordination Flared iliac wings Self-mutilation Dyslexia Dislocated radial head Short attention span Obstructive sleep apnea Hypoplastic iliac wing Capillary hemangioma Neuroblastoma Shawl scrotum Congenital glaucoma Dental malocclusion Convex nasal ridge Frontal upsweep of hair Arrhythmia Agenesis of corpus callosum Syndactyly Patent ductus arteriosus Delayed skeletal maturation Clinodactyly of the 5th finger Respiratory distress Hypospadias Abnormality of the dentition Polyhydramnios Dysphagia Frontal bossing Wide nasal bridge Hyperreflexia Flexion contracture Cataract Failure to thrive Immunodeficiency Upslanted palpebral fissure Hirsutism Abnormality of the pinna Hypoplasia of the maxilla Highly arched eyebrow Single transverse palmar crease Abnormality of the kidney Deeply set eye Postnatal growth retardation Respiratory tract infection Feeding difficulties in infancy Retrognathia Intellectual disability, moderate EEG abnormality Gastroesophageal reflux Autism Pes planus Polydactyly Narrow mouth Phonophobia Abnormal cornea morphology Mitral valve prolapse Neuroma Multiple mucosal neuromas Prominent corneal nerve fibers Ganglioneuromatosis Elevated urinary epinephrine Schizencephaly Proximal femoral epiphysiolysis Elevated calcitonin Medullary thyroid carcinoma Respiratory insufficiency Ganglioneuroma Nodular goiter Colonic diverticula Parathyroid hyperplasia Flushing Thyroid carcinoma Achalasia Anemia Cardiomyopathy Disproportionate tall stature Abnormality of skin pigmentation Lymphoma Tetralogy of Fallot Gastrointestinal hemorrhage Spontaneous abortion Paralysis Paresthesia Acrania Peripheral axonal neuropathy Blindness Malabsorption Genu valgum Pruritus Hypertrophic cardiomyopathy Kyphoscoliosis Osteoporosis Dilatation Abnormality of the thyroid gland Failure to thrive in infancy Bimanual synkinesia Prominent fingertip pads Enlarged tonsils Narrow maxilla Agoraphobia Vascular ring Duplication of phalanx of hallux Bifid uterus Chorioretinal dystrophy Keloids Large foramen magnum Tethered cord Duane anomaly Dyscalculia Parietal foramina Abnormality of the cervical spine Facial grimacing Short upper lip Premature thelarche Talon cusp Acne High, narrow palate Goiter Hemiparesis Subcutaneous nodule Thick lower lip vermilion Thick vermilion border Abnormality of the skin Polyneuropathy Hyperlordosis Papillary cystadenoma of the epididymis Photophobia Diarrhea Kyphosis Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Esophageal obstruction Adrenal medullary hypoplasia


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