Micrognathia, and Nephritis

Diseases related with Micrognathia and Nephritis

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


Top matches:

Medium match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Medium match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Low 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

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Other less relevant matches:

Low 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

Low match ACROOSTEOLYSIS


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Low 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

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Low 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

Low 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

Low match SCALP-EAR-NIPPLE SYNDROME


Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Nephritis

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

Patients with Micrognathia and Nephritis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormality of the dentition

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency

Common Symptoms - More than 50% cases


Proteinuria

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Cognitive impairment Abnormality of the kidney Seizures Microcephaly Hypertension Scoliosis Abnormal facial shape Hearing impairment Visual impairment Generalized hypotonia Sparse hair Brachydactyly Low-set ears Mandibular prognathia Oral cleft Umbilical hernia Glomerulonephritis Full cheeks Thick vermilion border Blepharophimosis Abnormality of the fingernails Everted lower lip vermilion Upslanted palpebral fissure Open bite Iris coloboma Patent ductus arteriosus Abnormality of the voice Recurrent respiratory infections Joint hyperflexibility Failure to thrive Low-set, posteriorly rotated ears Cleft lip Recurrent urinary tract infections Depressivity Hernia Frontal bossing Ataxia Cleft palate Telecanthus Pain Myopia Macrocephaly Protruding ear Kyphosis Long philtrum Inguinal hernia Coarse facial features Syndactyly Delayed eruption of teeth Patellar dislocation Spasticity Ventricular septal defect Stage 5 chronic kidney disease Feeding difficulties Craniosynostosis Hematuria Glaucoma High palate Anteverted nares Downslanted palpebral fissures Nystagmus Carious teeth Narrow forehead Multiple renal cysts Cryptorchidism Growth delay Strabismus

Rare Symptoms - Less than 30% cases


Hemiparesis Hypogonadotrophic hypogonadism Genu valgum Malabsorption Pyelonephritis Congenital cataract Corneal opacity Down-sloping shoulders Attention deficit hyperactivity disorder Hemivertebrae Narrow nose Widely spaced teeth Dehydration Fine hair Spina bifida occulta Hypotelorism Open mouth Neoplasm of the skin Cutis laxa Short ribs Renal agenesis Exotropia Nephrolithiasis Amblyopia Sparse scalp hair Microdontia Macroglossia Joint stiffness Malar flattening Abnormality of the ribs Joint hypermobility Periodontitis Motor delay Arnold-Chiari malformation Dysarthria Broad nasal tip Microphthalmia Aortic valve stenosis Behavioral abnormality Dental malocclusion Pectus excavatum Abdominal pain Recurrent fractures Constipation Kyphoscoliosis Dry skin Hydrocephalus Osteoporosis Abnormality of the neck Irritability Feeding difficulties in infancy Intellectual disability, moderate Hypotrichosis Coloboma Anxiety Gastroesophageal reflux Osteopenia Arthralgia EEG abnormality Joint laxity Renal hypoplasia Delayed puberty Skin ulcer Vesicoureteral reflux Postaxial polydactyly Macrotia Chronic otitis media Periorbital fullness Obsessive-compulsive behavior Vocal cord paralysis Prominent occiput Hallux valgus 2-3 toe syndactyly Tracheoesophageal fistula Narrow palpebral fissure Short toe Abnormal form of the vertebral bodies Short distal phalanx of finger Finger syndactyly Aggressive behavior Posteriorly rotated ears Hypercalciuria Prominent forehead Delayed speech and language development Intrauterine growth retardation Cerebellar hypoplasia Dysmetria Arachnodactyly Esotropia Sparse eyelashes Clinodactyly of the 5th finger Trigonocephaly Hypoplastic toenails Scaphocephaly Tubulointerstitial nephritis Sensorineural hearing impairment Lacrimation abnormality Aplasia of the middle phalanx of the hand Agenesis of permanent teeth Hepatomegaly Respiratory insufficiency Polydactyly Short neck Palpebral edema High forehead Anemia Smooth philtrum Visual loss Nephrocalcinosis Abnormality of dental enamel Skeletal dysplasia Scarring Wide mouth Unilateral renal agenesis Otitis media Portal hypertension Precocious puberty Gait disturbance Failure to thrive in infancy Radioulnar synostosis Tremor Hypercalcemia Redundant skin Cholelithiasis Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Schizophrenia Abnormality of dental morphology Type II diabetes mellitus Hyperreflexia Wrist swelling Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Sudden cardiac death Abnormality of dentin Lentiglobus Insomnia Chest pain Restlessness Hypodontia Nevus flammeus Facial cleft Glucose intolerance Prematurely aged appearance High hypermetropia Celiac disease Hypoammonemia Dense posterior cortical cataract Vertebral segmentation defect Muscular hypotonia Premature graying of hair Loss of consciousness Ptosis Polyuria Flexion contracture Ischemic stroke Infantile muscular hypotonia Sacral dimple Respiratory distress Hypertrophic cardiomyopathy Small nail Cerebral cortical atrophy Mitral valve prolapse Micropenis Hypoplasia of penis Autism Abnormality of extrapyramidal motor function Coarctation of aorta Cardiomegaly Hypothyroidism Pes planus Sleep disturbance Myocardial infarction Developmental regression Hyperlordosis Autistic behavior Paralysis Nausea and vomiting Abnormal cardiac septum morphology Pulmonic stenosis Hypsarrhythmia Stroke Broad forehead Neurological speech impairment Ventricular hypertrophy Thick lower lip vermilion Diabetes mellitus Postural instability Abnormality of the cardiovascular system Atrial septal defect Small for gestational age Bicuspid aortic valve Tetralogy of Fallot Progressive hearing impairment Abnormal dermatoglyphics Myopathy Pointed chin Increased body weight Increased bone mineral density Narrow face Hoarse voice Elevated serum creatine phosphokinase Hypertonia Gingival overgrowth Involuntary movements Intellectual disability, mild Short nose Mitral regurgitation Midface retrusion Absent speech Obesity Recurrent otitis media Abnormal heart morphology Delayed skeletal maturation Congestive heart failure Renal artery stenosis Soft skin Arteriosclerosis Reduced subcutaneous adipose tissue Long nose Freckling Absent eyelashes Hydrocele testis Nonimmune hydrops fetalis Membranoproliferative glomerulonephritis Pyloric stenosis Oval face Pulmonary lymphangiectasia Choroid plexus calcification Epidermal hyperkeratosis Facial telangiectasia in butterfly midface distribution Telangiectasia of extensor surfaces Absent eyebrow Chronic kidney disease Camptodactyly Dilatation Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Edema Alopecia Sparse and thin eyebrow Hyperkeratosis Prominent nasal bridge Eczema Telangiectasia Lymphedema Hydrops fetalis Hyperhidrosis Abnormality of the pinna Early onset of sexual maturation Breast aplasia Abnormality of the endocrine system Aplasia/Hypoplasia of the nipples Absent nipple Ureteral duplication Aplasia cutis congenita of scalp Small earlobe Bilateral renal hypoplasia Abnormality of the antihelix Hypoplastic helices Bilateral camptodactyly Underdeveloped tragus 3-4 finger cutaneous syndactyly Underdeveloped antitragus Abnormality of the scalp Eyelid coloboma Short columella Microtia Type I diabetes mellitus Nail dystrophy Nail dysplasia Abnormality of the skin Hypohidrosis Abnormality of the hair Abnormality of the nail Cutaneous syndactyly Hypoplastic nipples Abnormality of the urinary system Abnormality of the thorax Cupped ear Multiple lipomas Narrow nasal bridge Aplasia cutis congenita Dyssynergia Overfriendliness Poor coordination Dysgraphia Bladder diverticulum Cystic renal dysplasia Peptic ulcer Periorbital edema Rectal prolapse Arterial stenosis Abnormality of nervous system morphology Subvalvular aortic stenosis Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Retinal vascular tortuosity Abnormal renal morphology Peripheral pulmonary artery stenosis Abnormal endocardium morphology Large earlobe Pulmonary artery stenosis Abnormality of the vasculature Blue irides Hypoplasia of the zygomatic bone Chronic constipation Right ventricular hypertrophy Abnormality of the cerebral vasculature Decreased plasma carnitine Enuresis Villous atrophy Dyslexia Cerebral ischemia Abnormality of refraction Gait imbalance Thyroid hypoplasia Aplasia/Hypoplasia of the iris Nystagmus-induced head nodding Myxomatous mitral valve degeneration Abnormal social behavior Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Paroxysmal bursts of laughter Abnormality of the gastric mucosa Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Renovascular hypertension Infantile hypercalcemia Renal duplication Obsessive-compulsive trait Colonic diverticula Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Nocturia Food intolerance Synostosis of joints Abnormality of the bladder Elevated maternal serum alpha-fetoprotein Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Bicarbonaturia Reduced visual acuity Odontogenic neoplasm Splenomegaly Downturned corners of mouth Wide nose Thick eyebrow Thin vermilion border Paresthesia Synophrys Dolichocephaly Pectus carinatum Respiratory tract infection Narrow mouth Hypospadias Recurrent infections Headache Peripheral neuropathy Bowing of the long bones Absence of renal corticomedullary differentiation Short proximal phalanx of finger Frontal upsweep of hair Accessory oral frenulum Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Prominent metopic ridge Acute kidney injury Intestinal malrotation Thickened skin Nephronophthisis Absent frontal sinuses Carcinoma Retrognathia Proptosis Brachycephaly Abnormality of the skeletal system Neoplasm Osteolytic defects of the phalanges of the toes Partial absence of toe Hypoplastic 5th lumbar vertebrae Basilar invagination Premature loss of permanent teeth Basilar impression Flank pain Rough bone trabeculation Bone pain Biconcave vertebral bodies Respiratory arrest Platybasia Decreased skull ossification Mitral stenosis Osteolytic defects of the phalanges of the hand Syringomyelia Delayed cranial suture closure Polycystic kidney dysplasia Coarse hair Osteolysis Wormian bones Generalized hirsutism Low anterior hairline Abnormal retinal morphology Short thorax Papule Toe syndactyly Short middle phalanx of finger Abnormality of the hand 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 Facial asymmetry Polyhydramnios Esophageal atresia Clinodactyly Vomiting Posterior fossa cyst Sparse eyebrow Cerebellar vermis hypoplasia Dandy-Walker malformation Ectodermal dysplasia Minimal change glomerulonephritis Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Polymicrogyria Cerebral atrophy Cerebellar atrophy Abnormality of digit External ear malformation Short femoral neck Pneumonia Cone-shaped epiphysis Wide anterior fontanel Hepatic fibrosis Short phalanx of finger Renal dysplasia Cholestasis Bifid uvula Renal cyst Nephropathy Retinal dystrophy Abnormality of skin pigmentation Retinal degeneration Rod-cone dystrophy Hypoplasia of the corpus callosum Depressed nasal tip Deviation of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 4-5 toe syndactyly Small anterior fontanelle Annular pancreas Frontal balding Accessory spleen Intestinal atresia Abnormality of the spleen Duodenal atresia Asplenia Polysplenia Short 5th finger Facial palsy Cleft upper lip Finger swelling Joint contracture of the hand Hypophosphatemia Diabetes insipidus Flat occiput Hyponatremia Self-injurious behavior Rickets Hypokalemia Deep philtrum Reduced number of teeth Hypercholesterolemia Azoospermia Aminoaciduria Narrow palate Clonus Congenital glaucoma Abnormality of epiphysis morphology Stereotypy Dental crowding Hypoplasia of dental enamel Subcutaneous nodule Abnormality of the metaphysis Osteoarthritis Aciduria Increased serum lactate Abnormal bleeding Metabolic acidosis Long face Platyspondyly Dysphasia Pathologic fracture Camptodactyly of finger Abnormality of the renal tubule Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Abnormal pupil morphology Hyperparathyroidism Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Renal tubular dysfunction Taurodontia Hyperaldosteronism Gingivitis Atypical scarring of skin Joint swelling Renal tubular acidosis Osteomalacia Glomerulopathy Abnormal joint morphology Hip dislocation Arthritis Palmoplantar keratoderma Colitis Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Short 4th metacarpal Skin tags Fragile nails Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Vertebral fusion Cervical ribs Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Relative macrocephaly Muscle stiffness Spina bifida Bradycardia Hyperpigmentation of the skin Cerebral calcification Hypotension Nevus Supernumerary ribs Hamartomatous polyposis Neonatal hypotonia Ovarian fibroma Deeply set eye Thin upper lip vermilion Acidosis Hyporeflexia Areflexia Thrombocytopenia Blindness Ventriculomegaly Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Odontogenic keratocysts of the jaw Fibroma Cardiac rhabdomyoma Bifid ribs Curved fingers 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 Duplication of renal pelvis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Thick vermilion border, related diseases and genetic alterations Hepatomegaly and Pallor, related diseases and genetic alterations Congestive heart failure and Squamous cell carcinoma, related diseases and genetic alterations Muscle weakness and Wide mouth, related diseases and genetic alterations

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