Autoimmunity, and Lissencephaly

Diseases related with Autoimmunity and Lissencephaly

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


Top matches:

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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Other less relevant matches:

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low 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

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match LISSENCEPHALY 1; LIS1


Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic|ils|lissencephaly sequence, isolated

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY 1; LIS1

Low match MALONIC ACIDURIA


Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Top 5 symptoms//phenotypes associated to Autoimmunity and Lissencephaly

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

Patients with Autoimmunity and Lissencephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypothyroidism Immunodeficiency Microcephaly Heterotopia Anemia Short neck Abnormality of neuronal migration Failure to thrive Growth delay Abnormal cerebellum morphology Abnormality of the kidney Muscular hypotonia Atrial septal defect Polymicrogyria Recurrent infections Purpura Micrognathia Thrombocytopenia Scoliosis Cognitive impairment Kyphosis Abnormal facial shape Hearing impairment Neoplasm Myopia Ataxia Respiratory insufficiency Pain Motor delay Hypospadias Astigmatism Patent ductus arteriosus Vitiligo Muscle weakness Autoimmune thrombocytopenia Cerebellar hypoplasia Cleft palate Lymphoma Lymphopenia Cafe-au-lait spot Hypertelorism Strabismus Ptosis Amenorrhea High palate Fever Hemolytic anemia Skeletal muscle atrophy Anal atresia Attention deficit hyperactivity disorder Intellectual disability, moderate Hydronephrosis Abnormality of the pinna Pneumonia Depressed nasal bridge Brachydactyly Headache Autoimmune hemolytic anemia Pachygyria Posteriorly rotated ears Malabsorption Feeding difficulties Renal insufficiency Abnormality of the dentition Hashimoto thyroiditis Vomiting Thyroiditis Cardiomyopathy

Rare Symptoms - Less than 30% cases


Joint hypermobility Depressivity Obesity Cerebral ischemia Transient ischemic attack Abnormal heart morphology Hydrocephalus Narrow mouth Glomerulopathy Focal segmental glomerulosclerosis Chronic kidney disease Nephrotic syndrome Microdontia Hypertonia Ventricular septal defect Visual loss Ventriculomegaly Anal stenosis B-cell lymphoma Acidosis Anorectal anomaly Abdominal pain Myoclonus Constipation Bundle branch block Hypoplasia of the corpus callosum Hirsutism Low-set ears Protruding ear Feeding difficulties in infancy Delayed speech and language development Anxiety Hypoglycemia Jaundice Migraine Developmental regression Nephropathy Combined immunodeficiency Scaphocephaly Episodic vomiting Hypertrophic cardiomyopathy Hyperthyroidism Multiple cafe-au-lait spots Multiple lipomas Melanocytic nevus Goiter Seborrheic dermatitis Tremor Myopathy Intellectual disability, mild Hypopigmented skin patches Decreased antibody level in blood Dilatation Autism Abnormality of the middle ear Hypoparathyroidism Generalized tonic-clonic seizures Bulbous nose Stroke Nausea and vomiting Proteinuria Dementia Febrile seizures Congestive heart failure Cerebellar atrophy Lactic acidosis Abnormality of the vasculature Specific learning disability Coarctation of aorta Renal dysplasia Broad thumb Exotropia Schizophrenia Cellular immunodeficiency Cataract Hypertension Cachexia Primary amenorrhea Telangiectasia Poor suck Intrauterine growth retardation Chronic diarrhea Recurrent urinary tract infections Respiratory failure Apnea Atrioventricular block Otitis media Prominent nose Leukemia Platyspondyly Macrotia Retrognathia Mental deterioration Arrhythmia Heart block Cardiorespiratory arrest Delayed skeletal maturation Hypocalcemia Anoperineal fistula Short palm Respiratory distress Blindness Dystonia Liver abscess Cerebral atrophy Encephalopathy Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Dysphagia Prominent eyelashes Congenital mitral stenosis Nocturnal lagophthalmos Nystagmus Sensorineural hearing impairment Visual impairment Peripheral neuropathy Hepatomegaly Hyperreflexia Vertical orbital dystopia Premature thelarche Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Dysarthria Optic atrophy Gait disturbance Fatigue Areflexia Hypogonadism Hyporeflexia Paresthesia Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Carious teeth Delayed puberty Dysmetria Confusion Dilated cardiomyopathy Ichthyosis Vertigo Peripheral axonal neuropathy Nausea Polyneuropathy Coma Postural instability Pruritus Neurological speech impairment Elevated serum creatine phosphokinase Weight loss Narrow chest Rod-cone dystrophy Osteoporosis Vertebral clefting Diabetes mellitus Cerebral cortical atrophy Gait ataxia Dyspnea Nyctalopia Gastroesophageal reflux Photophobia EEG abnormality Myalgia Agenesis of corpus callosum Erythema Abnormality of the liver Common atrium Recurrent ear infections Epibulbar dermoid Growth hormone deficiency Limb undergrowth Highly arched eyebrow Single transverse palmar crease Hypodontia Intestinal malrotation Dental malocclusion Congenital diaphragmatic hernia Abnormal cardiac septum morphology Blue sclerae Small nail Recurrent otitis media Long eyelashes Abnormal vertebral morphology Sparse and thin eyebrow Increased body weight Wide nose Coloboma Horseshoe kidney Pes planus Wide nasal bridge Abnormality of the skeletal system Hernia Accelerated skeletal maturation Clinodactyly Severe short stature Micropenis Short ribs Paralysis Short toe Rhizomelia Joint laxity Short phalanx of finger Postnatal growth retardation Respiratory tract infection Abnormality of the ribs Congenital hip dislocation Hyperbilirubinemia Recurrent aspiration pneumonia Broad philtrum Depressed nasal tip Short 5th finger Retinal coloboma Mitral stenosis Optic nerve coloboma Cholangitis Small face Trichorrhexis nodosa Patellar dislocation Anterior plagiocephaly Generalized myoclonic seizures Ureteropelvic junction obstruction Diaphragmatic eventration Bronchomalacia Biliary atresia Prominent fingertip pads Short columella Overweight Abnormal dermatoglyphics Hydroureter Abnormality of the urinary system Failure to thrive in infancy Brittle hair Precocious puberty Cupped ear Bilateral cryptorchidism Preauricular pit Short metacarpal IgA deficiency Right bundle branch block Celiac disease Long palpebral fissure Severe hearing impairment Transposition of the great arteries Cerebellar vermis atrophy Congenital hypothyroidism Muscle cramps Pigmentary retinopathy Sudden cardiac death Amaurosis fugax Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Auditory hallucinations Motor polyneuropathy Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Dysesthesia Abnormality of the renal tubule Spotty hypopigmentation Gait imbalance Aortic dissection Renal tubular dysfunction Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Reduced consciousness/confusion Anterior hypopituitarism Hemianopia Stroke-like episode Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Abnormal macular morphology Paronychia Delusions Progressive spasticity Talipes equinovarus Cerebellar vermis hypoplasia Postnatal microcephaly Absence seizures Spastic tetraparesis Focal impaired awareness seizure Hypoplasia of the brainstem Mild global developmental delay Sepsis Agyria Perivascular spaces Type I lissencephaly Metabolic acidosis Hyperammonemia Poor appetite Ketosis Focal-onset seizure Tetraplegia Abnormal mitochondrial morphology Homonymous hemianopia Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Abnormality of acid-base homeostasis Abnormality of the cerebral white matter Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Spasticity Muscular hypotonia of the trunk Facial diplegia Posterior subcapsular cataract Sensory impairment Generalized hirsutism Abnormality of retinal pigmentation Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Hypogonadotrophic hypogonadism Anorexia Type I diabetes mellitus Exercise intolerance Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Gingival overgrowth Left ventricular hypertrophy Mutism Type II diabetes mellitus Increased serum lactate Memory impairment Hip dysplasia Cerebral calcification Abnormality of the cardiovascular system Generalized-onset seizure Bilateral sensorineural hearing impairment Pulmonary arterial hypertension Decreased body weight Status epilepticus Psychosis Ventricular hypertrophy Atrial fibrillation Hemiparesis Hypertrichosis Involuntary movements Ischemic stroke Hyperkinesis Progressive external ophthalmoplegia Primary adrenal insufficiency Visual field defect Prolonged QT interval Vertebral fusion Progressive sensorineural hearing impairment Basal ganglia calcification Rhabdomyolysis Abnormality of immune system physiology Pulmonary embolism Dysphasia Distal arthrogryposis Drowsiness Atopic dermatitis Abnormality of visual evoked potentials Neonatal hypoglycemia Xerostomia Mitochondrial myopathy Hyperkalemia Vestibular dysfunction Easy fatigability Hyponatremia Growth abnormality Decreased nerve conduction velocity Hypercalciuria Bilateral ptosis Hemiplegia Aortic aneurysm Abnormality of mitochondrial metabolism Ophthalmoparesis Aphasia Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Overlapping toe Adrenal insufficiency Epicanthus Abnormal T cell morphology Cryptorchidism Perisylvian polymicrogyria Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Femoral hernia Alcoholism Right aortic arch Impaired T cell function Duodenal stenosis Hypoplasia of the thymus Retinal vascular tortuosity Menorrhagia Abnormality of the thymus Vascular tortuosity Conotruncal defect Aplasia of the thymus Arteria lusoria Aplasia of the uterus Anterior segment developmental abnormality Esophoria Bipolar affective disorder Cholelithiasis Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Acne Inflammation of the large intestine Posterior embryotoxon Anisocytosis Petechiae Prolonged bleeding time Meningocele Sclerocornea Truncus arteriosus Myelomeningocele Tetany Juvenile rheumatoid arthritis Right aortic arch with mirror image branching Accommodative esotropia Arnold-Chiari malformation Myocardial necrosis Proximal muscle weakness Carcinoma Papule Abnormality of the scapula Large posterior fontanelle Palmoplantar keratoderma Hypoplasia of the maxilla Macroglossia Pectus excavatum Long fibula Overgrowth Intention tremor Subcutaneous nodule Gynecomastia Neoplasm of the skin Cranial nerve paralysis Rhizomelic arm shortening Cone-shaped metacarpal epiphyses Sacral meningocele Bruising susceptibility Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Epistaxis Gastrointestinal hemorrhage Abnormal bleeding 11 thoracic vertebrae Iliac crest serration Macrocephaly Downslanted palpebral fissures Horizontal inferior border of scapula Frontal bossing Irregular tarsal bones Widened sacrosciatic notch Focal lissencephaly Nasal speech Ecchymosis Hemangioma Dysgammaglobulinemia Abnormal hair quantity Decrease in T cell count B lymphocytopenia Pollakisuria T-cell lymphoma Recurrent infection of the gastrointestinal tract Penoscrotal hypospadias Malar prominence Glioma Mastoiditis Progressive vitiligo Bronchiectasis Abnormality of the face Choanal atresia Cutaneous photosensitivity Sloping forehead Rhabdomyosarcoma Abnormality of chromosome stability Convex nasal ridge Neuroblastoma Premature ovarian insufficiency Recurrent pneumonia Non-midline cleft lip Long nose Freckling Abnormality of the musculature Low anterior hairline Abnormality of the hair Medulloblastoma Acute lymphoblastic leukemia Hearing abnormality Acute leukemia Abnormal eyelid morphology Recurrent bronchitis Sinusitis Recurrent sinopulmonary infections Flexion contracture Neurodegeneration Bicuspid aortic valve Tetralogy of Fallot Abnormal platelet aggregation Iris coloboma High, narrow palate Bifid uvula Chorea Renal agenesis Abnormal platelet function Anisopoikilocytosis Reduced prothrombin consumption Low posterior hairline Short palpebral fissure Myelofibrosis Increased mean platelet volume Amblyopia Abnormal thrombocyte morphology Spina bifida Absence of alpha granules Microtia Cleft upper lip Umbilical hernia Small for gestational age Behavioral abnormality Microphthalmia Prominent nasal bridge Abnormality of cardiovascular system morphology Abnormality of the nervous system Inguinal hernia Arthritis Short philtrum Telecanthus Cleft lip Hyperactivity Upslanted palpebral fissure Craniosynostosis Blepharophimosis Recurrent respiratory infections Drooling Increased intracranial pressure Lateral displacement of the femoral head Intellectual disability, profound Thoracic hypoplasia Premature birth Waddling gait Decreased testicular size Metaphyseal irregularity Cone-shaped epiphysis Lumbar hyperlordosis Fine hair Gliosis Abnormal lung morphology Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Bone marrow hypocellularity Opacification of the corneal stroma Atherosclerosis Hyperlipidemia Brain atrophy Neutropenia Reduced bone mineral density Metaphyseal dysplasia Flat acetabular roof Hyperphosphatemia Delayed epiphyseal ossification Cone-shaped epiphyses of the phalanges of the hand Osteopenia Thin upper lip vermilion Turricephaly Hyperlordosis Cortical gyral simplification Scarring Disproportionate short stature Corneal opacity Hip dislocation Short finger Stage 5 chronic kidney disease Abnormality of skin pigmentation Azoospermia Coarse hair Myocarditis Shallow acetabular fossae Dentinogenesis imperfecta Right ventricular cardiomyopathy Arteriosclerosis Hypoplasia of the capital femoral epiphysis Mucopolysacchariduria Multiple lentigines Steroid-resistant nephrotic syndrome Increased thyroid-stimulating hormone level Precocious atherosclerosis Encephalomalacia Deep philtrum Abnormal immunoglobulin level Moyamoya phenomenon Premature arteriosclerosis Anterior pituitary dysgenesis Nephrosclerosis Subvalvular aortic stenosis Short long bone Redundant skin Emphysema Encephalitis Glomerulosclerosis Epiphyseal dysplasia Glomerulonephritis Nephritis Spondyloepiphyseal dysplasia Systemic lupus erythematosus High pitched voice Villous atrophy Hypermelanotic macule Steatorrhea Protuberant abdomen Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature Lymphoproliferative disorder Hypoplastic iliac wing Lobular carcinoma in situ Pulmonary hemorrhage Papilledema Metaphyseal cupping Hodgkin lymphoma Renal cell carcinoma Metaphyseal chondrodysplasia Spondylometaphyseal dysplasia Lipoma Flared iliac wings Prolactin excess Porencephalic cyst Skin tags Megalencephaly Meningioma Hydrocele testis Arteriovenous malformation Furrowed tongue Abnormality of the uterus Ovarian neoplasm Hamartoma Ovarian cyst Hand polydactyly Melanoma Breast carcinoma Cupped ribs Palmoplantar hyperkeratosis Incoordination Dysdiadochokinesis Intracranial hemorrhage Third degree atrioventricular block Acute myeloid leukemia Cutis marmorata Macule Abnormality of the thyroid gland Narrow greater sacrosciatic notches Cystic hygroma Cellulitis Coronal cleft vertebrae Astrocytoma Intestinal polyposis Multiple trichilemmomata Neoplasm of the thyroid gland Endometrial carcinoma Colorectal polyposis Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Transitional cell carcinoma of the bladder Fibroadenoma of the breast Varicocele Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Follicular thyroid carcinoma Thyroid adenoma Bone cyst Generalized hyperkeratosis 11 pairs of ribs Long penis Cavernous hemangioma Enlarged polycystic ovaries Papilloma Hamartomatous polyposis Fibroma Neoplasm of the central nervous system Intestinal polyp Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Chronic constipation



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