Depressed nasal bridge, and Stage 5 chronic kidney disease

Diseases related with Depressed nasal bridge and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Stage 5 chronic kidney disease that can help you solving undiagnosed cases.


Top matches:

High match ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

High match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

High match CRANIOECTODERMAL DYSPLASIA 2; CED2


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:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

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Other less relevant matches:

High match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

High match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

High match ZELLWEGER SYNDROME


Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

High match ALAGILLE SYNDROME 1; ALGS1


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

High match JOUBERT SYNDROME 3; JBTS3


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

High match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

High match HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS


Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Renal insufficiency Very Common - Between 80% and 100% cases
Epicanthus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Proteinuria Hypertelorism Hearing impairment Seizures Hypertension Hepatomegaly Cholestasis Frontal bossing Renal dysplasia High forehead High palate Elevated hepatic transaminase Cataract Cognitive impairment Cryptorchidism Malar flattening Anteverted nares Myopia Upslanted palpebral fissure Craniosynostosis Microcephaly Nephronophthisis Chronic kidney disease Visual impairment Nystagmus Abnormality of skin pigmentation Renal hypoplasia Multicystic kidney dysplasia Scarring Downslanted palpebral fissures Low-set ears Malabsorption Muscular hypotonia Intellectual disability, severe Sensorineural hearing impairment Abnormality of the skeletal system Hernia Visual loss Abnormality of the dentition Short neck Microdontia Renal cyst Pigmentary retinopathy Prominent forehead Polydactyly Acidosis Patent ductus arteriosus Abnormality of the kidney

Rare Symptoms - Less than 30% cases


Respiratory insufficiency Anemia Blepharophimosis Telangiectasia of the skin Narrow forehead Smooth philtrum Hepatic failure Cholangitis Widely spaced teeth Cutis laxa Rhizomelia Sparse eyelashes Short ribs Everted lower lip vermilion Hepatic fibrosis Hydrops fetalis Pneumonia Wide anterior fontanel Posteriorly rotated ears Pyloric stenosis Opacification of the corneal stroma Glomerulosclerosis Glomerulonephritis Posterior embryotoxon Abnormality of the vasculature Prolonged neonatal jaundice Arteriosclerosis Abnormal electroretinogram Abnormal form of the vertebral bodies Generalized hypotonia Failure to thrive Ventricular septal defect Round face Areflexia Delayed skeletal maturation Jaundice Polymicrogyria Heterotopia Nephrotic syndrome Skeletal dysplasia Lymphedema Umbilical hernia Long nose Wide mouth Short distal phalanx of finger Retinal dystrophy Nephropathy Macroglossia Exotropia Hypoplasia of the capital femoral epiphysis Premature birth Growth delay Intrauterine growth retardation Congestive heart failure Abnormality of the liver Hypothyroidism Dilatation Stroke Corneal opacity Sparse hair Ataxia Abnormality of the pinna Mandibular prognathia Sparse and thin eyebrow Large fontanelles Recurrent urinary tract infections Highly arched eyebrow Protruding ear Hydronephrosis Retrognathia Feeding difficulties Telangiectasia Scoliosis Glomerulopathy Nephritis Thick vermilion border Midface retrusion Macrocephaly Strabismus Renal hypoplasia/aplasia Flat face Clinodactyly Brachydactyly Telecanthus Rod-cone dystrophy Labial hypoplasia Intestinal lymphangiectasia Ulnar deviation of the hand or of fingers of the hand Reduced subcutaneous adipose tissue Freckling Widely patent fontanelles and sutures Glutaric aciduria Rectourethral fistula Vitamin D deficiency Brachyturricephaly Abnormality of the mitochondrion Abnormality of the tongue Renal cortical cysts Tapetoretinal degeneration Ulnar deviation of the hand Palpebral edema Profound global developmental delay Absent eyelashes Redundant neck skin Hepatic cysts Abnormal chorioretinal morphology Breech presentation Hypoplastic olfactory lobes Brachycephaly Clinodactyly of the 5th finger Reduced number of intrahepatic bile ducts Papillary thyroid carcinoma Axenfeld anomaly Intellectual disability, mild Atrial septal defect Broad nasal tip Neoplasm Intrahepatic biliary dysgenesis Albuminuria Sudanophilic leukodystrophy Very long chain fatty acid accumulation Elevated long chain fatty acids Subependymal cysts Eczema Hyperoxaluria Brushfield spots Renal cortical microcysts Absent eyebrow Abnormality of the helix Adrenal hypoplasia Thickened nuchal skin fold Optic disc pallor Nephrocalcinosis Aminoaciduria Leukodystrophy Decreased liver function Hypoplasia of dental enamel Pachygyria Oval face Pulmonary lymphangiectasia Choroid plexus calcification Severe muscular hypotonia Epidermal hyperkeratosis Aciduria Unicoronal synostosis Facial telangiectasia in butterfly midface distribution Single transverse palmar crease High, narrow palate Pulmonary hypoplasia Multiple small medullary renal cysts Chronic hepatic failure Intellectual disability, progressive Reduced tendon reflexes Bell-shaped thorax Congenital glaucoma Coarse facial features Narrow nose External ear malformation Hydrocele testis Epiphyseal stippling Primary adrenal insufficiency Underdeveloped supraorbital ridges Protruding tongue Nonimmune hydrops fetalis Abnormality of coagulation Aplasia/Hypoplasia of the corpus callosum Abnormality of neuronal migration Metatarsus adductus Flat occiput Rocker bottom foot Clitoral hypertrophy Cubitus valgus Membranoproliferative glomerulonephritis Renal artery stenosis Polycystic kidney dysplasia Macrotia Abnormal anterior chamber morphology Kyphoscoliosis Micropenis Delayed ability to walk Retinal coloboma Central apnea Episodic tachypnea Elongated superior cerebellar peduncle Neonatal breathing dysregulation Keratoconus Enlarged fossa interpeduncularis Intellectual disability, moderate Oculomotor apraxia Dental malocclusion Wide intermamillary distance Hypoplasia of penis Pancytopenia Thick lower lip vermilion Chorioretinal atrophy Biliary atresia Abnormal dermatoglyphics Vertebral segmentation defect Molar tooth sign on MRI Renal tubular acidosis Bifid scrotum Abnormal pupil morphology Butterfly vertebrae Coloboma Apraxia Cerebellar vermis hypoplasia Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Open mouth Thyroid carcinoma Abnormality of the ureter Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Truncal ataxia Coronal craniosynostosis Pulmonary artery stenosis Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Malnutrition Ptosis Hepatosplenomegaly Hyperkeratosis Vesicoureteral reflux Triangular face Hypodontia Microcornea Hypopigmentation of the skin Cirrhosis Alopecia Anal atresia Delayed puberty Pulmonic stenosis Prominent nose Intrahepatic biliary atresia Broad forehead Short philtrum Prominent nasal bridge Retinopathy Hypotrichosis Carcinoma Conductive hearing impairment Deeply set eye Edema Gastrointestinal hemorrhage Hypoplasia of the ulna Chordee Spasticity Butterfly vertebral arch Heart murmur Congenital sensorineural hearing impairment Portal hypertension Corneal dystrophy Hypoplastic nipples Hypercholesterolemia Aplasia/Hypoplasia of the nipples Spina bifida occulta Specific learning disability Finger clinodactyly Hemivertebrae Pointed chin Abnormal vertebral morphology Band keratopathy Hypertriglyceridemia Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Pruritus Bone marrow hypocellularity Feeding difficulties in infancy Postaxial hand polydactyly Cystic hygroma Mesomelia Sparse eyebrow Preaxial polydactyly Patent foramen ovale Plagiocephaly Narrow palpebral fissure Hyperbilirubinemia Left ventricular hypertrophy Limb undergrowth Polysplenia Ectodermal dysplasia Full cheeks Narrow chest Dolichocephaly Joint laxity Polyhydramnios Inguinal hernia Abnormal heart morphology Pectus excavatum Syndactyly Cutaneous finger syndactyly High anterior hairline Cleft palate Oral cleft Short femoral neck Cone-shaped epiphysis Trigonocephaly Short phalanx of finger Sparse scalp hair Bifid uvula Delayed eruption of teeth Postaxial polydactyly Retinal degeneration Low-set, posteriorly rotated ears Biliary cirrhosis Cleft lip Depressivity Hypoplasia of the corpus callosum Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Splenomegaly Unicornuate uterus Abnormal retinal morphology Delayed speech and language development Short foot Short palm Facial asymmetry Hypermetropia Nail dystrophy Autism Diabetes mellitus Cerebral atrophy Behavioral abnormality Erythrocyte cylindruria Bilateral sensorineural hearing impairment Craniopharyngioma Elliptocytosis Abnormal aortic valve morphology Microscopic hematuria Increased number of teeth Abnormality of the hair Abnormality of the metaphysis Tapered finger Hematuria Thin vermilion border Oligohydramnios Small nail Pancreatic aplasia Long toe Pica Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Abnormality of upper lip Ureterocele Hyperconvex nail Subcortical cerebral atrophy Urethral stenosis Hyperechogenic kidneys Aplasia of the uterus Hypertrichosis Maturity-onset diabetes of the young Ovarian cyst Upper limb undergrowth Shawl scrotum Long fingers Unilateral renal agenesis Language impairment Focal impaired awareness seizure Schizophrenia Horizontal nystagmus Short thorax Acute kidney injury EEG abnormality Multiple cafe-au-lait spots Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Protuberant abdomen Steatorrhea Subvalvular aortic stenosis Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Epiphyseal dysplasia Encephalitis Coarse hair Precocious atherosclerosis Dentinogenesis imperfecta Azoospermia Anterior pituitary dysgenesis Glaucoma Agenesis of corpus callosum Hyporeflexia Encephalopathy Hypospadias Talipes equinovarus Optic atrophy Lateral displacement of the femoral head Nephrosclerosis Premature arteriosclerosis Cellular immunodeficiency Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Right ventricular cardiomyopathy Reduced bone mineral density Hyperlipidemia Prominent metopic ridge Absence of renal corticomedullary differentiation Headache Immunodeficiency Kyphosis Diarrhea Vomiting Cerebellar atrophy Cardiomyopathy Fever Motor delay Short proximal phalanx of finger Thrombocytopenia Aplasia of the middle phalanx of the hand Frontal upsweep of hair Accessory oral frenulum Pyelonephritis Pancreatic cysts Congenital hepatic fibrosis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Scaphocephaly Recurrent infections Dementia Atherosclerosis Brain atrophy Lymphopenia Abnormality of epiphysis morphology Abnormal lung morphology Fine hair Intellectual disability, profound Lumbar hyperlordosis Decreased testicular size Waddling gait Lymphoma Migraine Gliosis Osteopenia Abnormal cerebellum morphology Neutropenia Bulbous nose Astigmatism Platyspondyly Hip dislocation Autoimmunity Hyperlordosis Developmental regression Thin upper lip vermilion Telangiectasia of extensor surfaces



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