Wide nasal bridge, and Glomerulonephritis

Diseases related with Wide nasal bridge and Glomerulonephritis

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


Top matches:

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

High match ACROOSTEOLYSIS


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

High match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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Other less relevant matches:

High match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

High match FEINGOLD SYNDROME 1; FGLDS1


Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Medium 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

Medium match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Medium match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Top 5 symptoms//phenotypes associated to Wide nasal bridge and Glomerulonephritis

Symptoms // Phenotype % cases
Epicanthus Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Wide nasal bridge and Glomerulonephritis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Macrocephaly Short stature Hypertelorism Brachydactyly Thick vermilion border Umbilical hernia Hypertension Proteinuria Oral cleft Abnormality of the dentition Patent ductus arteriosus Renal insufficiency Cleft lip Malar flattening Cognitive impairment High palate Cataract Cleft palate Pain Telecanthus Coarse facial features Abnormality of the kidney Dental malocclusion Full cheeks Abnormal facial shape Strabismus Clinodactyly of the 5th finger Macrotia Vesicoureteral reflux Frontal bossing Dolichocephaly Ataxia Spasticity Dysarthria Nephritis Thick eyebrow Syndactyly Skeletal dysplasia Pectus excavatum Periorbital fullness Recurrent respiratory infections Polydactyly Postaxial polydactyly Facial asymmetry Feeding difficulties Ptosis Sleep disturbance Depressivity Polycystic kidney dysplasia Pointed chin Sacral dimple Hypoplastic toenails Arachnoid cyst Nausea and vomiting Renal dysplasia Autistic behavior Gastroesophageal reflux Agenesis of corpus callosum Depressed nasal bridge Obesity Delayed speech and language development Long eyelashes Carious teeth Hernia Downslanted palpebral fissures Atrial septal defect Lymphedema Macroglossia Scoliosis Low-set ears Stage 5 chronic kidney disease Sparse hair Hepatomegaly Palpebral edema Ventricular septal defect Hydrocephalus Short neck Long philtrum Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Anxiety Autism Constipation Absent speech Immunodeficiency Midface retrusion Hypertrophic cardiomyopathy Hyperactivity Intellectual disability, mild Behavioral abnormality Deeply set eye Neonatal hypotonia Hydronephrosis Gait disturbance Hypermetropia Abnormality of the neck Intellectual disability, moderate Short ribs Flexion contracture Hypogonadotrophic hypogonadism Hemivertebrae Tremor Spina bifida occulta Hyperreflexia Exotropia Nephrolithiasis Irritability Milia Respiratory distress Bulbous nose Protruding ear Down-sloping shoulders Hemiparesis Cerebral calcification Agenesis of permanent teeth Widely spaced teeth Muscular hypotonia Tracheoesophageal fistula Clinodactyly Posteriorly rotated ears Upslanted palpebral fissure Aggressive behavior Blepharophimosis Smooth philtrum Everted lower lip vermilion Abnormal form of the vertebral bodies 2-3 toe syndactyly Renal cyst Scarring Craniosynostosis Vocal cord paralysis Wide mouth Aplasia of the middle phalanx of the hand Anemia Low-set, posteriorly rotated ears Visual impairment Vomiting Sensorineural hearing impairment Generalized hypotonia Recurrent skin infections Pancreatic cysts Nephronophthisis Prominent forehead Dental crowding Hypohidrosis Cutis laxa Accelerated skeletal maturation Hepatic fibrosis Large hands Bifid uvula Recurrent urinary tract infections Impaired pain sensation Narrow forehead Bruxism Cerebellar cortical atrophy Hair-pulling Microdontia Recurrent pyelonephritis Hallux valgus High forehead Pectus carinatum Anteverted nares Thickened skin Motor delay Coarse hair Narrow nose Cryptorchidism Arnold-Chiari malformation Recurrent infections Headache Kyphosis Splenomegaly Joint hyperflexibility Open bite Myopia Abnormality of the fingernails Hypotrichosis Short distal phalanx of finger Wide nose Iris coloboma Broad nasal tip Failure to thrive Aortic valve stenosis Short toe Abnormality of the voice Synophrys Abnormality of the skeletal system Arthralgia EEG abnormality Alopecia Multiple renal cysts Inguinal hernia Kyphoscoliosis Osteopenia Mandibular prognathia Glaucoma Patellar dislocation Joint laxity Respiratory tract infection Abdominal pain Dilatation Prominent occiput Visual loss Osteoporosis Radioulnar synostosis Failure to thrive in infancy Precocious puberty Portal hypertension Unilateral renal agenesis Loss of consciousness Polyuria Glucose intolerance Abnormality of dental morphology Chronic otitis media Obsessive-compulsive behavior Premature graying of hair Posterior embryotoxon Vertebral segmentation defect Pulmonary artery stenosis Villous atrophy Enuresis Abnormality of the cerebral vasculature Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Abnormality of the vasculature Poor coordination Celiac disease Soft skin Nevus flammeus Arnold-Chiari type I malformation Redundant skin Abnormality of lipid metabolism Megalocornea Insomnia Restlessness Facial cleft Prematurely aged appearance High hypermetropia Hypercalcemia Reduced bone mineral density Cholelithiasis Pulmonic stenosis Hypotelorism Abnormality of the cardiovascular system Tetralogy of Fallot Dehydration Renal agenesis Otitis media Esotropia Chest pain Sudden cardiac death Hypodontia Postural instability Dysmetria Genu valgum Malabsorption Neurological speech impairment Hypoplasia of penis Corneal opacity Small for gestational age Broad forehead Stroke Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Joint stiffness Paralysis Hyperlordosis Developmental regression Feeding difficulties in infancy Edema Pes planus Hypothyroidism Mitral valve prolapse Abnormality of extrapyramidal motor function Hypercalciuria Increased bone mineral density Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Schizophrenia Infantile muscular hypotonia Ischemic stroke Bicuspid aortic valve Progressive hearing impairment Abnormal dermatoglyphics Abnormality of dental enamel Nephrocalcinosis Increased body weight Narrow face Coarctation of aorta Thick lower lip vermilion Cardiomegaly Hypsarrhythmia Type II diabetes mellitus Ventricular hypertrophy Renal hypoplasia Small nail Myocardial infarction Hoarse voice Recurrent otitis media Open mouth Mitral regurgitation Involuntary movements Amblyopia Gingival overgrowth Dyslexia Facial palsy Cerebral ischemia Delayed myelination Acetabular dysplasia Flared iliac wings Large forehead Beaking of vertebral bodies Dysostosis multiplex Tubular atrophy Barrel-shaped chest Focal segmental glomerulosclerosis Glomerulosclerosis Bone marrow hypocellularity Joint contracture of the hand Abnormal lung morphology Brain atrophy J-shaped sella turcica Hepatic steatosis Hirsutism Abnormality of the foot Hip dislocation Abnormal pyramidal sign Hepatosplenomegaly Thrombocytopenia Cardiomyopathy Optic atrophy Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Macrovesicular hepatic steatosis Obstructive lung disease Dyssynergia Abnormality of the pancreas Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Lobulated tongue Narrow naris Deviation of finger Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Bifid tongue Hypoplastic acetabulae Abnormal cortical gyration Myelomeningocele Median cleft lip Increased number of teeth Atrioventricular canal defect Molar tooth sign on MRI Radial deviation of finger Cutaneous syndactyly Microretrognathia Hypoplasia of dental enamel Underdeveloped nasal alae Abnormal cerebellum morphology Abnormality of the cerebral white matter Stellate iris Early onset of sexual maturation Abnormality of refraction Abnormality of nervous system morphology Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Dysgraphia Tubulointerstitial abnormality Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Cerebral cortical atrophy Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Gait imbalance Abnormality of the ankles Overriding aorta Overfriendliness Flat cornea Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Abnormal social behavior Aortic arch aneurysm Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Micropenis Heat intolerance Diabetes mellitus Rough bone trabeculation Wormian bones Osteolysis Delayed cranial suture closure Syringomyelia Periodontitis Osteolytic defects of the phalanges of the hand Mitral stenosis Decreased skull ossification Platybasia Respiratory arrest Biconcave vertebral bodies Absent frontal sinuses Low anterior hairline Flank pain Basilar impression Premature loss of permanent teeth Basilar invagination Hypoplastic 5th lumbar vertebrae Partial absence of toe Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Generalized hirsutism Skin ulcer Cardiac rhabdomyoma Delayed puberty Short middle phalanx of finger Abnormality of the hand Narrow palpebral fissure Finger clinodactyly Abnormal vertebral morphology Short thumb Choanal atresia Short palpebral fissure Decreased fetal movement Specific learning disability Triangular face Single transverse palmar crease Anal atresia Bone pain Toe syndactyly Finger syndactyly Paresthesia Dry skin Polyhydramnios Joint hypermobility Thin vermilion border Downturned corners of mouth Hematuria Recurrent fractures Intestinal malrotation Bowing of the long bones Odontogenic keratocysts of the jaw Bifid ribs Esophageal atresia Muscle stiffness Colitis Vertebral fusion Long fingers Basal cell carcinoma Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Relative macrocephaly Neoplasm of the skin Microphthalmia Brachycephaly Spina bifida Thoracic scoliosis Bradycardia Hyperpigmentation of the skin Proptosis Abnormality of the ribs Hypotension Nevus Palmoplantar keratoderma Retrognathia Cleft upper lip Arachnodactyly Carcinoma Papule Abnormality of the sternum Sprengel anomaly Curved fingers Hamartomatous polyposis Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Cervical ribs Fragile nails Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Osteolytic defects of the phalanges of the toes Short 4th metacarpal Skin tags Neoplasm Abnormality of digit External ear malformation Cerebellar hypoplasia Hydrops fetalis Tall stature Chronic diarrhea Abnormality of the genital system Broad-based gait Hepatitis High, narrow palate Hepatic failure Unsteady gait Abnormality of the pinna Eczema Telangiectasia Sparse and thin eyebrow Multicystic kidney dysplasia Sparse eyelashes Hyporeflexia Chronic kidney disease Pyloric stenosis Absent eyebrow Reduced subcutaneous adipose tissue Diarrhea Long nose Ventriculomegaly Freckling Absent eyelashes Absence of renal corticomedullary differentiation Cerebral visual impairment Short chin Frontal upsweep of hair Hyperorality Elevated serum creatine phosphokinase Delayed skeletal maturation Short nose Congestive heart failure Hypertonia Myopathy Hyperkeratosis Intrauterine growth retardation Prominent nasal bridge Growth delay Fulminant hepatic failure Tongue thrusting Toenail dysplasia Abnormality of the outer ear Episodic vomiting Delayed CNS myelination Concave nasal ridge Coloboma Abnormality of the periventricular white matter Poor eye contact Weak cry Cellulitis Prominent supraorbital ridges Recurrent upper respiratory tract infections Poor head control Increased intracranial pressure Short proximal phalanx of finger Accessory oral frenulum Depressed nasal tip Aplasia/Hypoplasia of the middle phalanx of the 5th finger Retinal dystrophy Abnormality of skin pigmentation Retinal degeneration Peripheral neuropathy Rod-cone dystrophy Pneumonia Hypospadias Hypoplasia of the corpus callosum Respiratory insufficiency Nystagmus Deviation of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Delayed eruption of teeth 4-5 toe syndactyly Small anterior fontanelle Annular pancreas Narrow mouth Frontal balding Accessory spleen Intestinal atresia Abnormality of the spleen Duodenal atresia Asplenia Polysplenia Short 5th finger Nephropathy Telangiectasia of extensor surfaces Pyelonephritis Short thorax Hypoplasia of the capital femoral epiphysis Hydrocele testis Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Scaphocephaly Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nonimmune hydrops fetalis Short femoral neck Facial telangiectasia in butterfly midface distribution Cone-shaped epiphysis Trigonocephaly Arteriosclerosis Membranoproliferative glomerulonephritis Wide anterior fontanel Oval face Short phalanx of finger Pulmonary lymphangiectasia Cholestasis Sparse scalp hair Choroid plexus calcification Epidermal hyperkeratosis Trident hand



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