Frontal bossing, and Nephrotic syndrome

Diseases related with Frontal bossing and Nephrotic syndrome

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

Top matches:

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME Is also known as congenital nad deficiency disorder|congenital nad deficiency disorder 2|kynureninase deficiency, complete

Related symptoms:

  • Microcephaly
  • Low-set ears
  • Delayed speech and language development
  • Frontal bossing
  • Syndactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME

Other less relevant matches:

Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH Is also known as hypercalciuric rickets

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

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

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.

HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Is also known as hypophosphatemia, x-linked|hpdr|hhrh|hyp|xlh|hypophosphatemic vitamin d-resistant rickets|vitamin d-resistant rickets, x-linked

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Top 5 symptoms//phenotypes associated to Frontal bossing and Nephrotic syndrome

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Craniosynostosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the skeletal system Intellectual disability Growth delay Global developmental delay Generalized hypotonia Narrow chest Hypercalciuria Stage 5 chronic kidney disease Rod-cone dystrophy Chronic kidney disease Neoplasm Nephronophthisis Macrocephaly Hypertension Pain Brachydactyly Hepatic fibrosis

Rare Symptoms - Less than 30% cases

Renal dysplasia Pulmonic stenosis Triangular face Renal hypoplasia Cholestasis Hypopigmentation of the skin Short distal phalanx of finger Abnormal form of the vertebral bodies Cirrhosis Macrotia Retinopathy Protruding ear Feeding difficulties Visual impairment Conductive hearing impairment Hydrocephalus Abnormality of the dentition Acidosis Brachycephaly Prominent forehead Downslanted palpebral fissures Depressed nasal bridge Strabismus Micrognathia Hemivertebrae Seizures Hypocalciuria Tibial bowing Polydactyly Postaxial polydactyly Ectodermal dysplasia Limb undergrowth Postaxial hand polydactyly Cutis laxa Fibular bowing Renal phosphate wasting Hypophosphatemic rickets Renal tubular dysfunction Sagittal craniosynostosis Osteomalacia Femoral bowing Peripheral pulmonary artery stenosis Hypophosphatemia Bowing of the legs Metaphyseal irregularity Rickets Elevated alkaline phosphatase Bone pain Muscular hypotonia Muscle weakness Rhizomelia Syndactyly Low-set ears Nephrocalcinosis Tetany Hearing impairment Dry skin Migraine Vomiting Recurrent pneumonia Dehydration Hepatosplenomegaly Retinal dystrophy Pneumonia Constipation Depressivity Gastrointestinal hemorrhage Diarrhea Arthralgia Blindness Fever Ataxia Cataract Hepatomegaly Microcephaly Hyperthyroidism Hyperkalemia Hyperaldosteronism Polyuria Metabolic alkalosis Hypomagnesemia Renal salt wasting Abnormally large globe Polydipsia Hypokalemia Sensorineural hearing impairment Alkalosis Chondrocalcinosis Acute kidney injury External genital hypoplasia Molar tooth sign on MRI Impaired platelet aggregation Renal juxtaglomerular cell hypertrophy/hyperplasia Hyperchloriduria Hyperprostaglandinuria Increased serum prostaglandin E2 Fetal polyuria Increased urinary potassium Renal potassium wasting Hypochloremia Increased circulating renin level Hyposthenuria Low-to-normal blood pressure Hypokalemic alkalosis Hypokalemic metabolic alkalosis Pseudohypoaldosteronism Hyperactive renin-angiotensin system Ventricular arrhythmia Cloverleaf skull Premature birth Scaphocephaly Abnormality of ocular smooth pursuit Hypoplastic male external genitalia Short nail Elongated superior cerebellar peduncle Episodic tachypnea Hypoplasia of teeth Dysgenesis of the cerebellar vermis Brainstem dysplasia Abnormal saccadic eye movements Widely spaced teeth Sandal gap Neonatal breathing dysregulation Fine hair Thickened superior cerebellar peduncle Everted lower lip vermilion Enlarged fossa interpeduncularis Metopic synostosis Accessory oral frenulum Generalized muscle weakness Polyhydramnios Muscle cramps Paresthesia Congenital blindness Small for gestational age Ventricular hypertrophy Osteopenia Optic nerve coloboma Central apnea Bilateral postaxial polydactyly Agenesis of cerebellar vermis Abnormal renal physiology Arrhythmia Abnormal corpus callosum morphology Rotary nystagmus 3-4 toe syndactyly Broad nail Impaired smooth pursuit Hypocalcemia Osteoarthritis Microphthalmia Dental malocclusion Nevus Hypoplasia of the maxilla High forehead Proptosis Posteriorly rotated ears High palate Midface retrusion Neonatal hypotonia Convex nasal ridge Camptodactyly Malar flattening Coloboma Respiratory insufficiency Optic atrophy Dolichocephaly Abnormality of the foot Renal cyst Short metacarpal Epidermal acanthosis Esotropia Craniofacial dysostosis Turricephaly Proportionate short stature Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Glomerulonephritis Laryngomalacia Increased intracranial pressure Inflammatory abnormality of the eye Abnormal sacrum morphology Choanal atresia Brachyturricephaly Abnormality of the metacarpal bones Arnold-Chiari malformation Bicoronal synostosis Membranous nephropathy Abnormal palate morphology Acanthosis nigricans Short uvula Nystagmus Abnormal cerebellum morphology Ptosis Left ventricular hypertrophy Elevated circulating parathyroid hormone level Flattening of the talar dome Trapezoidal distal femoral condyles Patent foramen ovale Pseudo-fractures Chorioretinal coloboma Hypoplasia of the brainstem Polyostotic fibrous dysplasia Hypomineralization of enamel Hyperphosphatemia Tertiary hyperparathyroidism Spinal cord compression Ankylosis Spinal canal stenosis Glycosuria Hyperparathyroidism Hypercalcemia Abnormality of pelvic girdle bone morphology Choanal stenosis Shortening of the talar neck Pectus excavatum Cleft palate Bone marrow hypocellularity Dandy-Walker malformation Broad phalanx of the toes Pes valgus Broad distal phalanx of finger Toe syndactyly Apraxia Cutaneous finger syndactyly Cone/cone-rod dystrophy Encephalocele Hypermetropia Hip dysplasia Oculomotor apraxia Asthma Full cheeks Abnormal electroretinogram Nephropathy Thin vermilion border Joint hypermobility Smooth philtrum Elevated serum creatinine Hypoplastic left heart Sparse hair Cervical lymphadenopathy Atrial septal defect Ventricular septal defect Intrauterine growth retardation Myopia Cryptorchidism Abnormal facial shape Pharyngitis Serositis Optic neuritis Intellectual disability, mild Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Congestive heart failure Dilatation Acrocyanosis Abnormality of the kidney Delayed puberty Malabsorption Pruritus Broad forehead Short philtrum Stroke Scarring Abnormality of the liver Carcinoma Clinodactyly Elevated hepatic transaminase Deeply set eye Jaundice Coarse facial features Upslanted palpebral fissure Clinodactyly of the 5th finger Delayed skeletal maturation Areflexia Visual loss Large forehead Posterior subcapsular cataract Abnormality of skin pigmentation Pallor Lymphadenopathy Vertigo Infertility Papule Cough Skin rash Nyctalopia Erythema Postnatal growth retardation Abdominal distention Arthritis Myalgia Abdominal pain Hyperhidrosis Headache Splenomegaly Fatigue Flexion contracture Scoliosis Nausea Sepsis Poor coordination Leukocytosis Peripheral visual field loss Uveitis Episodic fever Subcapsular cataract Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Intestinal obstruction Limitation of joint mobility Apathy Urticaria Purpura Conjunctivitis Vasculitis Long eyelashes Optic disc pallor Eczema Aciduria Anal atresia Hepatic failure Joint laxity Vitamin D deficiency Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Axenfeld anomaly Patent ductus arteriosus Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Delayed speech and language development Talipes Thyroid carcinoma Bulging epiphyses Telecanthus Bulging of the costochondral junction Deformed rib cage Increased serum 1,25-dihydroxyvitamin D3 Calcium nephrolithiasis Enlargement of the ankles Enlargement of the costochondral junction Sparse bone trabeculae Enlargement of the wrists Restrictive deficit on pulmonary function testing Widely patent fontanelles and sutures Difficulty standing Thin bony cortex Delayed epiphyseal ossification Abnormality of abdomen morphology Flat occiput Nephrolithiasis Recurrent fractures Difficulty walking Abnormal pupil morphology Cholestatic liver disease Flat face Hypertriglyceridemia Hypercholesterolemia Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Pointed chin Abnormal vertebral morphology Lymphedema Exotropia Coarctation of aorta Renal hypoplasia/aplasia Abnormality of the ribs Tetralogy of Fallot Pigmentary retinopathy Specific learning disability Prominent nose Round face Vesicoureteral reflux Hypodontia Microcornea Corneal dystrophy Portal hypertension Peripheral arterial stenosis Abnormality of the ureter Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Renal tubular acidosis Glomerulosclerosis Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Heart murmur Noncommunicating hydrocephalus


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