Frontal bossing, and Diarrhea

Diseases related with Frontal bossing and Diarrhea

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

Top matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Other less relevant matches:

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Top 5 symptoms//phenotypes associated to Frontal bossing and Diarrhea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Diarrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sparse hair Growth delay Seizures Short stature Depressed nasal bridge Hypogonadism Anemia Vomiting Downslanted palpebral fissures Concave nasal ridge Hypertelorism Sparse scalp hair Fine hair Macrocephaly Hepatomegaly Low-set ears Abnormal facial shape Osteopenia

Rare Symptoms - Less than 30% cases

Squamous cell carcinoma Poikiloderma Osteosarcoma Cataract Cutaneous photosensitivity Osteoporosis Alopecia Edema Pain Dry skin Polyhydramnios Dehydration Small for gestational age Hearing impairment Delayed puberty Cognitive impairment Recurrent upper respiratory tract infections Wide mouth Generalized hypotonia Heart block Anteverted nares Dysarthria Brittle hair Triangular face Hypoplasia of the radius Short thumb Hypotrichosis Ventricular septal defect Thrombocytopenia Abnormal heart morphology Aortic regurgitation Hepatosplenomegaly Premature birth Respiratory tract infection Basal cell carcinoma Camptodactyly Overgrowth Immunodeficiency Splenomegaly Delayed speech and language development Hypothyroidism Asthma Proptosis Clinodactyly Diabetes mellitus Absent speech Partial duplication of thumb phalanx Intrauterine growth retardation Aplasia of the ulna Wide nasal bridge Short digit Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Long philtrum Mesoaxial polydactyly Decreased serum insulin-like growth factor 1 Streak ovary Abnormality of the carpal bones Hematemesis Small thenar eminence Cirrhosis Pancytopenia Tetralogy of Fallot Aciduria Bifid uvula Sepsis Wide nose Hepatic failure Pulmonic stenosis Hernia Broad forehead Microtia Abnormality of the liver Abnormality of the pinna Elevated hepatic transaminase Jaundice Narrow mouth Abnormal spermatogenesis Increased thyroid-stimulating hormone level Hypoplasia of the ulna Abnormal T-wave Decreased testicular size Primary amenorrhea Myocardial infarction Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Amenorrhea Dental malocclusion Patellar subluxation Prominent nose Polyneuropathy Sensory neuropathy Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Choreoathetosis Hallucinations Aplasia of the pectoralis major muscle Lactose intolerance Decreased serum estradiol Tibial torsion Hepatic fibrosis Decreased serum testosterone level Anodontia Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Hypergonadotropic hypogonadism Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Depressed nasal ridge Leukopenia Abnormality of the hair Oligodactyly Limited elbow extension Absent thumb Abnormal cardiac septum morphology Polydactyly Atrioventricular canal defect Short humerus Patent ductus arteriosus Absent radius Petechiae Pectus excavatum Thoracic scoliosis Abnormality of cardiovascular system morphology Short clavicles Syndactyly Atrial septal defect Respiratory distress Nausea Bruising susceptibility Fatigue Horseshoe kidney Menorrhagia Bundle branch block Triphalangeal thumb Atrioventricular block Right bundle branch block Eosinophilia Finger clinodactyly Aortic valve stenosis Gastrointestinal hemorrhage Bradycardia Abnormal vertebral morphology Atrial fibrillation Hypoplastic left heart Epistaxis Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Abnormality of the skeletal system Hypertension Total anomalous pulmonary venous return Large forehead Ecchymosis Abnormal thrombocyte morphology Abnormality of the pancreas Villous atrophy Complete atrioventricular canal defect Anomalous pulmonary venous return Phocomelia Woolly hair Allergy Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Hypoalbuminemia Bowing of the legs Peripheral pulmonary artery stenosis Trichorrhexis nodosa Cleft palate High forehead Micrognathia Abnormalities of placenta or umbilical cord Truncus arteriosus Large placenta Abnormality of iron homeostasis Galactosuria Down-sloping shoulders Humoral immunodeficiency Increased mean platelet volume Hypermethioninemia Renal cortical microcysts Secundum atrial septal defect Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Mental deterioration Difficulty walking Micropenis Defective production of NFKB1-dependent cytokines Carcinoma Hyperkeratosis Hyperhidrosis Abnormality of the dentition Visual impairment Feeding difficulties Neoplasm Aplasia of the sweat glands Erythema Periorbital wrinkles Recurrent infection of the gastrointestinal tract Anhidrotic ectodermal dysplasia Lymphocytosis Conical tooth Heat intolerance Agammaglobulinemia Postnatal growth retardation Skin rash Anhidrosis Severe vision loss Constipation Arrhythmia Fever Acrokeratosis Lamellar cataract Acantholysis Alopecia of scalp Striae distensae Leukemia Erythroderma Melanoma Telangiectasia Eczema Abnormal blistering of the skin Hypopigmentation of the skin Abnormality of skin pigmentation Leukocytosis Hypohidrosis Macrotia Short chin Myopia Strabismus Interstitial pneumonitis Chronic lung disease Prominent occiput Relative macrocephaly Abnormal intestine morphology Type I diabetes mellitus Hydrocephalus Abnormal lung morphology Hepatitis Malabsorption Dolichocephaly Autoimmunity Respiratory failure Posteriorly rotated ears Ventriculomegaly Hypoglycemia Bronchiectasis Congenital muscular torticollis Ectodermal dysplasia Hypodontia Arthritis Recurrent respiratory infections Pneumonia Recurrent infections Increased head circumference Facial hypotonia Deeply set eye Pyloric stenosis Tented upper lip vermilion Torticollis Congenital hip dislocation Open mouth Narrow forehead Poor speech Hip dislocation Acidosis Paresthesia Babinski sign Hyperactivity Sleep disturbance Hirsutism Thick eyebrow Synophrys Joint stiffness Aggressive behavior Coarse facial features Behavioral abnormality Hypertrichosis Short neck Dysphagia Flexion contracture Hypoplasia of teeth Absent eyelashes Prematurely aged appearance Absent eyebrow Thick lower lip vermilion Progressive hearing impairment Microdontia Sensorineural hearing impairment Abnormality of metabolism/homeostasis Intellectual disability, mild Dystonia Gait disturbance Hyperreflexia Peripheral neuropathy High palate Scoliosis Drooling Cellular metachromasia Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Dysostosis multiplex Growth abnormality Coarse hair Myelodysplasia Palmoplantar keratoderma Muscle cramps Hyperthyroidism Tetany Chondrocalcinosis Alkalosis Abnormally large globe Renal salt wasting Hypomagnesemia Hyperaldosteronism Hyperkalemia Impaired platelet aggregation Polyuria Polydipsia Hypercalciuria Hypokalemia Ventricular arrhythmia Nephrocalcinosis Generalized muscle weakness Metabolic alkalosis Increased circulating renin level Neutropenia Hyperchloriduria Nausea and vomiting Nail dystrophy Skeletal dysplasia Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Increased serum prostaglandin E2 Hyperprostaglandinuria Hyperactive renin-angiotensin system Hypocalciuria Fetal polyuria Increased urinary potassium Renal potassium wasting Hypochloremia Hyposthenuria Hypokalemic alkalosis Hypokalemic metabolic alkalosis Pseudohypoaldosteronism Quadricuspid aortic valve


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