Lymphoma, and Optic atrophy

Diseases related with Lymphoma and Optic atrophy

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


Top matches:

Medium match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME


Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Medium match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Medium match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

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Other less relevant matches:

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Medium match CARDIOFACIOCUTANEOUS SYNDROME


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

Low match MACHADO-JOSEPH DISEASE; MJD


Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Low match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Low match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Top 5 symptoms//phenotypes associated to Lymphoma and Optic atrophy

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

Patients with Lymphoma and Optic atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Cryptorchidism Edema Muscular hypotonia Cataract Prominent forehead Retinal dystrophy Lymphedema Ptosis Epicanthus Strabismus Myopia Anemia Anteverted nares Failure to thrive Growth delay Hypermetropia Macrotia Abnormal facial shape Frontal bossing Hypertelorism Hypertonia Long philtrum Thick vermilion border Low-set, posteriorly rotated ears Ventricular septal defect Abnormal heart morphology Aggressive behavior Bilateral ptosis Deep philtrum Astigmatism Abnormal cardiac septum morphology Proptosis Abnormality of the kidney Depressed nasal bridge Micrognathia Vesicoureteral reflux Behavioral abnormality High palate Neoplasm Pancytopenia Cardiomyopathy Gastroesophageal reflux Macrocephaly Delayed speech and language development Low-set ears Hyperpigmentation of the skin Hepatosplenomegaly Abnormality of cardiovascular system morphology Cerebral cortical atrophy Dolichocephaly Ventriculomegaly Joint hypermobility Failure to thrive in infancy Scoliosis Splenomegaly Posteriorly rotated ears Blindness Rigidity Spasticity Thickened skin Sloping forehead Full cheeks Pointed chin Scaling skin Pleural effusion Dry skin Abnormal eyelash morphology Abnormality of the eye Underdeveloped supraorbital ridges Visual loss Chylothorax

Rare Symptoms - Less than 30% cases


Short nose Status epilepticus Short neck Skin rash Myopathy Specific learning disability Microphthalmia Inguinal hernia Pectus excavatum Motor delay Redundant skin Polyhydramnios Retinal detachment High forehead Joint laxity Wide nose Subcutaneous nodule Underdeveloped nasal alae Sparse hair Chromosome breakage Clumsiness Delayed skeletal maturation Depressivity Cerebral atrophy Generalized hyperpigmentation Congestive heart failure Vomiting Feeding difficulties Malabsorption Dysphagia Dysarthria Hepatomegaly Excessive wrinkled skin Abnormality of retinal pigmentation Amblyopia Feeding difficulties in infancy Broad forehead Pectus carinatum Diabetes mellitus Poor suck Sensorineural hearing impairment Retinopathy Cubitus valgus Cerebellar atrophy Neurodevelopmental delay Short attention span Pain Polyneuropathy Narrow face Protruding ear Abnormal vertebral morphology Upslanted palpebral fissure Progressive cerebellar ataxia Hydrocephalus Diarrhea Hypoglycemia Glaucoma Bruising susceptibility Pulmonic stenosis Hydronephrosis Conductive hearing impairment Severe short stature Falls Coarse facial features Large fontanelles Aciduria Cafe-au-lait spot Triangular face Abnormal bleeding Webbed neck Oxycephaly Low posterior hairline Fine hair Wide nasal bridge Myelodysplasia Melanonychia Gangrene Nevus Cutis laxa Abnormality of skin pigmentation Overgrowth Nail dystrophy High, narrow palate Postnatal growth retardation Carcinoma Muscle stiffness Hyperhidrosis Bilateral sensorineural hearing impairment Alopecia Retinal dysplasia Venous thrombosis Narrow palate Abnormality of the dentition Respiratory distress Abnormality of vision Intrauterine growth retardation Visual impairment Optic nerve hypoplasia Anophthalmia Cellulitis Abnormal toenail morphology Sleep disturbance Gliosis Abnormality of the optic nerve Chorioretinal dysplasia Mandibular prognathia Abnormal nasolacrimal system morphology Neonatal hypotonia Respiratory tract infection Leukonychia Intellectual disability, severe Erysipelas Truncal ataxia Sparse eyelashes Panniculitis Skin ulcer Genu valgum Neurofibromas Chronic otitis media Babinski sign Dystonia Abnormality of the sternum Infantile spasms Flexion contracture Tremor Limb ataxia Peripheral neuropathy Abnormality of extrapyramidal motor function Ectropion Skeletal muscle atrophy Aplasia/Hypoplasia of the eyebrow Hydroureter Melanocytic nevus Neuronal loss in central nervous system Bradykinesia Abnormality of eye movement Open bite Parkinsonism Abnormal cerebellum morphology Muscle cramps Postural instability Neurodegeneration Sensory neuropathy Distal amyotrophy Confusion Unsteady gait Abnormal heart valve morphology Large for gestational age Ophthalmoplegia Abnormal pyramidal sign Anxiety Gait ataxia Absent eyebrow Malnutrition Myoclonus Obsessive-compulsive behavior Dementia Heart murmur Long palpebral fissure Abnormal mitral valve morphology Multiple cafe-au-lait spots Delayed CNS myelination Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Diplopia Endocarditis Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the testis Abnormal myocardium morphology Laryngeal cleft Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Abnormality of refraction Cavernous hemangioma Abnormality of hair texture Deep palmar crease Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Gastrointestinal dysmotility Thickened helices Generalized ichthyosis Functional abnormality of the gastrointestinal tract Biparietal narrowing Alopecia of scalp Oral aversion Curly hair Multiple plantar creases Eyelid fasciculation Multiple palmar creases Submucous cleft hard palate Anal stenosis Poor appetite Atopic dermatitis Abnormality of the auditory canal Slow-growing hair Inappropriate crying Arnold-Chiari type I malformation Tongue thrusting Enlarged kidney Absent eyelashes Hypoplasia of the zygomatic bone Cutaneous T-cell lymphoma Premature skin wrinkling Morphological abnormality of the gastrointestinal tract Abnormality of the ulna Abnormality of the gastrointestinal tract Puberty and gonadal disorders Woolly hair Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Frontal balding Palatal myoclonus Hallucinations Normocytic anemia Jaundice Pes planus Patent ductus arteriosus Hyperreflexia Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Small cell lung carcinoma Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Extramedullary hematopoiesis Otitis media Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Blue sclerae Metabolic acidosis Lactic acidosis Lymphadenopathy Abnormality of the liver Abnormality of the nervous system Elevated hepatic transaminase Hypodontia Renal agenesis Kyphoscoliosis Poor coordination Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Periventricular leukomalacia Cavum septum pellucidum Advanced eruption of teeth Long foot Gray matter heterotopias Enlarged cisterna magna High anterior hairline Acute lymphoblastic leukemia Apraxia Neuroblastoma Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Large hands Nephroblastoma Precocious puberty Reduced number of teeth Abnormal dermatoglyphics Accelerated skeletal maturation Tall stature Hypoplasia of dental enamel Heterotopia Small nail Arthralgia Acidosis Fasciculations Spinocerebellar tract degeneration Supranuclear ophthalmoplegia Delirium Dysmetric saccades Restless legs Hypometric saccades Torsion dystonia Chronic pain Dilated fourth ventricle Low back pain Myokymia Olivopontocerebellar atrophy Tongue fasciculations Spastic dysarthria Absent Achilles reflex Impaired horizontal smooth pursuit Delusions Urinary bladder sphincter dysfunction Progressive external ophthalmoplegia Atrophy/Degeneration affecting the brainstem Decreased number of peripheral myelinated nerve fibers Gaze-evoked nystagmus Amyotrophic lateral sclerosis Impaired vibratory sensation Akinesia Ophthalmoparesis Spinal muscular atrophy Back pain External ophthalmoplegia Abnormal autonomic nervous system physiology Downbeat nystagmus Facial-lingual fasciculations Abdominal pain Cone/cone-rod dystrophy Elevated serum creatine phosphokinase Obesity Fever Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Megaloblastic anemia Macrocytic anemia Secondary amenorrhea Hyperglycemia Polycystic ovaries Aminoaciduria Abnormal electrooculogram Hoarse voice Cardiac arrest Situs inversus totalis Anorexia Amenorrhea Abnormality of the skin Neutropenia Retinal degeneration Paresthesia Lethargy Stroke Pallor Arrhythmia Headache Sparse eyebrow Sagittal craniosynostosis Brittle hair Phimosis Highly arched eyebrow Abnormality of the foot Gait disturbance Hypertension Cognitive impairment Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Abnormal leukocyte morphology Esotropia Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Testicular atrophy Ridged nail Aplastic anemia Oral leukoplakia Blepharitis Premature loss of teeth Hodgkin lymphoma Ascites Wide intermamillary distance Myeloid leukemia Abnormal eyebrow morphology Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Hydrocele testis Facial hypotonia Decreased muscle mass Hip dysplasia Proximal placement of thumb Overfolded helix Abnormality of the thorax Cholelithiasis Bicuspid aortic valve Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Hydrops fetalis Mitral regurgitation Epistaxis Cyanosis Acute myeloid leukemia Restrictive ventilatory defect Reduced factor XII activity Flat occiput Immunodeficiency Chorioretinal lacunae Myopic astigmatism Exudative vitreoretinopathy Retinal thinning Prominent nasal tip Congenital microcephaly Retinal fold Vitreoretinopathy Chorioretinal atrophy Cortical gyral simplification Agitation Patent foramen ovale Hyporeflexia Thick lower lip vermilion Pigmentary retinopathy Broad nasal tip Microcornea Corneal opacity Attention deficit hyperactivity disorder Thin upper lip vermilion Reduced visual acuity Hyperactivity Intellectual disability, mild Hypoplasia of the corpus callosum Abnormal eyelid morphology Abnormality of the hair Hypospadias Cerebellar hypoplasia Increased antibody level in blood Horseshoe kidney Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Flared metaphysis Squamous cell carcinoma Epiphora Neonatal respiratory distress Pterygium Dermal atrophy Anosmia Abnormal intestine morphology Leukopenia Conjunctivitis Bone marrow hypocellularity Osteoporosis Telangiectasia Sparse scalp hair Decreased fetal movement Oligohydramnios Cerebral calcification Decreased testicular size Gastrointestinal hemorrhage Sepsis Hypopigmentation of the skin Cirrhosis Carious teeth Small for gestational age Muscular hypotonia of the trunk Hypoplasia of olfactory tract Juvenile myelomonocytic leukemia Hyperextensible skin Umbilical hernia Peripheral axonal neuropathy Ichthyosis Hypotrichosis Abnormality of the cerebral white matter Pruritus Neurological speech impairment Scarring Erythema Irritability Telecanthus Hypertrophic cardiomyopathy EEG abnormality Osteopenia Bulbous nose Autism Hyperkeratosis Constipation Clinodactyly of the 5th finger Encephalopathy Hernia Malar flattening Kyphosis Unilateral radial aplasia Aphalangy of the hands Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Long face Hepatic steatosis Limited shoulder movement Decreased body weight Relative macrocephaly Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Abnormality of the nail Aspiration Cerebral visual impairment Open mouth Palmoplantar keratoderma Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Coarctation of aorta Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Dental malocclusion Premature birth Intestinal malrotation Abdominal distention Persistent cloaca Perineal fistula Reduced prothrombin activity Hypotelorism Narrow nasal bridge Absent thumb Hallux valgus Hypoplasia of the ulna Tracheoesophageal fistula Trigonocephaly Hypoplasia of the radius Abnormality of the metacarpal bones Spina bifida occulta Short thumb Renal dysplasia Bowing of the long bones Prominent nose Aplasia/Hypoplasia of the thumb Bifid uvula Polymicrogyria Anal atresia Facial asymmetry Prominent nasal bridge Craniosynostosis Narrow mouth Brachycephaly Agenesis of corpus callosum Abnormality of the skeletal system Cleft palate Abnormality of the subarachnoid space Reduced factor X activity Anteriorly placed anus Short humerus Bicoronal synostosis Anterior plagiocephaly Aplasia of metacarpal bones Bilateral radial aplasia Flat forehead Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Patellar hypoplasia Abnormal localization of kidney Oligodactyly Bilateral conductive hearing impairment Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Choanal stenosis Coronal craniosynostosis Shallow orbits Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Absent radius Abnormality of the cerebral ventricles



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