Depressed nasal bridge, and Pruritus

Diseases related with Depressed nasal bridge and Pruritus

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

Top matches:

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Other less relevant matches:

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Low match SRD5A3-CDG

SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Pruritus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Prominent forehead Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Pruritus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short nose Failure to thrive Short stature Hearing impairment Recurrent respiratory infections Growth delay Neoplasm Micrognathia Delayed speech and language development High palate Low-set ears Downslanted palpebral fissures Abnormality of skin pigmentation Inflammatory abnormality of the skin Narrow forehead Eczema Nystagmus Muscular hypotonia Feeding difficulties Failure to thrive in infancy Lymphedema Strabismus Long philtrum Wide nasal bridge Ventriculomegaly Cryptorchidism Myopia Intrauterine growth retardation Congestive heart failure Dilatation Clinodactyly Respiratory tract infection Brachycephaly Epicanthus Scoliosis Erythema Papule Intellectual disability, severe Elevated hepatic transaminase Hyperkeratosis Hepatomegaly Intellectual disability, mild Skin rash Vomiting Genu valgum Full cheeks Ptosis Recurrent infections Palmoplantar keratoderma Abnormality of the dentition Osteopenia

Rare Symptoms - Less than 30% cases

Round face Dolichocephaly Vesicoureteral reflux Deep palmar crease Thin upper lip vermilion Triangular face Hypermetropia Edema Hypoplasia of the corpus callosum Hypopigmentation of the skin Cutis laxa Leukemia Delayed puberty Pulmonic stenosis Apnea Stroke Scarring Craniosynostosis Decreased body weight Autism Chromosome breakage Gastrointestinal hemorrhage Melanocytic nevus Fever Motor delay Behavioral abnormality Kyphosis Open mouth Sleep disturbance Abnormality of the cardiovascular system Bradycardia Sleep apnea Poor suck Chronic otitis media Malnutrition Specific learning disability Broad nasal tip Small hand Heart murmur Narrow nasal bridge Dystrophic fingernails Hemivertebrae Pointed chin Deep philtrum Optic nerve hypoplasia Growth hormone deficiency Coarctation of aorta Polymicrogyria Abnormality of the kidney Broad forehead Abnormality of the pinna Low posterior hairline Hydrocephalus Hypoplasia of the zygomatic bone Prolonged neonatal jaundice High, narrow palate Deeply set eye Encephalopathy Abnormal heart morphology Generalized hirsutism Posteriorly rotated ears Skin ulcer Abnormal lung morphology Ichthyosis Cutaneous photosensitivity Dry skin Anteverted nares Arachnodactyly Carious teeth Hepatosplenomegaly High forehead Proptosis Obesity Thrombocytopenia Abnormal cardiac septum morphology Malar flattening Splenomegaly Diarrhea Telecanthus Anemia Nevus Osteomyelitis Atrial septal defect Clinodactyly of the 5th finger Cataract Coarse facial features Macrotia Frontal bossing Visual loss Hypertension Upslanted palpebral fissure Delayed skeletal maturation Ventricular septal defect Abnormality of the genitourinary system Oculomotor apraxia Peripheral axonal neuropathy Abnormality of the gastrointestinal tract Sparse eyelashes Astigmatism Abnormality of the ulna Premature skin wrinkling Progressive visual loss Long face Joint hypermobility Abnormal palate morphology Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Narrow palate Nail dystrophy Hypotrichosis Abnormal hair pattern Myocardial infarction Thickened skin Fine hair Cafe-au-lait spot Abnormality of the testis Hyperpigmentation of the skin Abnormality of the optic nerve Cerebral visual impairment Thick upper lip vermilion Abnormality of the cerebral white matter Cardiomegaly Woolly hair Aspiration Abnormality of the nail Pectus carinatum Neurological speech impairment Short attention span Atopic dermatitis Alopecia of scalp Underdeveloped supraorbital ridges Poor appetite Redundant skin Thick vermilion border Hepatic steatosis Aplasia/Hypoplasia of the corpus callosum Pleural effusion Scaling skin Sparse eyebrow Webbed neck Bilateral ptosis Brittle hair Abdominal distention Retinal dystrophy Abnormal bleeding Dental malocclusion Hyperextensible skin Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Premature birth Hemangioma Delayed gross motor development Ectropion Cubitus valgus Falls Bulbous nose Intestinal malrotation Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Bruising susceptibility Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Hemiparesis Multiple palmar creases Delayed CNS myelination Abnormal intestine morphology Lymphoma Recurrent fractures Delayed eruption of teeth Joint hyperflexibility Cough Cleft palate Necrolytic migratory erythema Subependymal cysts Periventricular cysts Lower limb hyperreflexia CNS hypomyelination Hyperammonemia Elbow flexion contracture Abnormality of the hair Brain atrophy Thin vermilion border Micromelia Severe global developmental delay Camptodactyly Respiratory insufficiency Hyperreflexia Flexion contracture Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Abnormality of the face Eosinophilia Thick hair Type I transferrin isoform profile Nevus flammeus of the forehead Malar rash Macrodontia Severe intrauterine growth retardation Sacral dimple Short chin Broad-based gait Smooth philtrum Synophrys Postnatal growth retardation Pes planus Reduced antithrombin III activity Anterior pituitary hypoplasia Microcytic anemia Skin vesicle Abnormality of coagulation Erythroderma Oligodontia Hypertrichosis Cerebellar vermis hypoplasia Coloboma Cerebellar atrophy Generalized abnormality of skin Paronychia Increased IgE level Atelectasis Gingivitis Cellulitis Narrow nasal ridge Rhabdomyosarcoma Abnormal myocardium morphology Increased nuchal translucency Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Sparse or absent eyelashes Abnormal location of ears Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Abnormality of refraction Abnormality of the hairline Puberty and gonadal disorders Periorbital fullness Prominent superficial veins Calvarial skull defect Hypermelanotic macule Sarcoma Melanoma Hypopigmented skin patches Neoplasm of the skin Subcutaneous nodule Everted lower lip vermilion Bronchiolitis obliterans Increased sensitivity to ionizing radiation Abnormality of the thymus Dermal translucency Bronchiolitis Mild global developmental delay Morphological abnormality of the gastrointestinal tract Emphysema Wide anterior fontanel Muscular hypotonia of the trunk Pneumonia Midface retrusion Immunodeficiency Oral aversion Multiple plantar creases Eyelid fasciculation Irritability Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Sparse hair Pulmonary embolism Feeding difficulties in infancy Hypoplasia of the ulna Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Telangiectasia of the skin Long nose Chorioretinal atrophy Vertebral segmentation defect Glomerulosclerosis Pulmonary artery stenosis Portal hypertension Renal hypoplasia/aplasia Corneal dystrophy Hypercholesterolemia Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Abnormal vertebral morphology Exotropia Renal dysplasia Abnormal form of the vertebral bodies Cholestasis Abnormality of the vasculature Coronal craniosynostosis Renal hypoplasia Axenfeld anomaly Cognitive impairment Pain 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 Vitamin D deficiency Papillary thyroid carcinoma Intrahepatic cholestasis Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Hypertriglyceridemia Nephrotic syndrome Myopathy Abnormality of the fingernails Concave nasal ridge Chronic lung disease Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Recurrent pneumonia Abnormality of the middle ear Bilateral single transverse palmar creases Low anterior hairline Abnormality of retinal pigmentation Thin skin Depressed nasal ridge Hepatitis Dehydration Convex nasal ridge Asthma Hirsutism Abnormality of metabolism/homeostasis Visual impairment White forelock Poliosis Abnormality of the ribs Short philtrum Tetralogy of Fallot Pigmentary retinopathy Prominent nose Hypodontia Microcornea Short distal phalanx of finger Flat face Hepatic failure Cirrhosis Stage 5 chronic kidney disease Anal atresia Malabsorption Retinopathy Facial hirsutism Abnormality of the liver Protruding ear Carcinoma Conductive hearing impairment Jaundice Acidosis Areflexia Renal insufficiency Abnormality of the skeletal system Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Talipes equinovarus Syndactyly Abnormality of the eye Clitoral hypoplasia Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Anteverted ears Acromicria Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Poor gross motor coordination Ataxia Hypoventilation Constipation Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Aggressive behavior Hydronephrosis EEG abnormality Umbilical hernia Gastroesophageal reflux Polyhydramnios Cerebral cortical atrophy Hyperhidrosis Alopecia Inguinal hernia Dysarthria Pectus excavatum Depressivity Hernia Abnormality of cardiovascular system morphology Cerebral atrophy Hypertonia Blindness Cardiomyopathy Short neck Dysphagia Optic atrophy Macrocephaly Iris hypopigmentation Hypopigmentation of hair Hyporeflexia Infertility Decreased fetal movement Oligohydramnios Amenorrhea Hip dysplasia Febrile seizures Esotropia Sepsis Tapered finger Short foot Downturned corners of mouth Short palm Attention deficit hyperactivity disorder Psychosis Abnormality of the nervous system Neonatal hypotonia Hypoglycemia Photophobia Narrow mouth Weight loss Micropenis Respiratory failure Hyperactivity Diabetes mellitus Hypogonadism Osteoporosis Type II diabetes mellitus Primary amenorrhea Striae distensae Emotional lability Impaired pain sensation Myeloid leukemia Polyphagia External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Radial deviation of finger Clumsiness Hyperinsulinemia Precocious puberty Nasal speech Infantile muscular hypotonia Scrotal hypoplasia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Insulin resistance Decreased head circumference


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