Ataxia, and Lymphedema

Diseases related with Ataxia and Lymphedema

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


Top matches:

Medium match AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME


Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Low match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Low match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

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Other less relevant matches:

Low match WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Low 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 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

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE


Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Low match AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME


Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Lymphedema

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Lymphedema. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Cryptorchidism Hyperreflexia Cataract Atrial septal defect Spasticity Microcephaly Downslanted palpebral fissures Scoliosis Epicanthus Ventricular septal defect Micrognathia Abnormal facial shape Sparse hair Ptosis Behavioral abnormality Myopia Prominent forehead Clinodactyly Hernia Hypertonia Leukemia Neoplasm Pointed chin Short stature Webbed neck Dental malocclusion Overgrowth Fine hair Pulmonic stenosis Camptodactyly Cerebral cortical atrophy Posteriorly rotated ears Cerebellar hypoplasia Inguinal hernia Patent ductus arteriosus Growth delay Hypotrichosis Depressed nasal bridge High palate Cerebral atrophy Hypertrophic cardiomyopathy Umbilical hernia Mandibular prognathia Intellectual disability, severe Abnormality of cardiovascular system morphology Abnormal heart morphology Cerebellar atrophy Edema Anteverted nares Sensorineural hearing impairment Dysarthria Macrocephaly Abnormal cardiac septum morphology Thrombocytopenia Ventriculomegaly High, narrow palate Cutis laxa Sloping forehead Pachygyria Muscular hypotonia Abnormality of the cerebral white matter Low-set ears Macrotia Cubitus valgus Aplasia/Hypoplasia of the cerebellum Delayed speech and language development Long philtrum

Rare Symptoms - Less than 30% cases


Abnormality of vision Clumsiness Short neck Multiple lentigines High forehead Cavum septum pellucidum Neurofibromas Glaucoma Clinodactyly of the 5th finger Cardiomyopathy Tall stature Vomiting Microphthalmia Abnormality of the eye Radial deviation of finger Short nose Abnormality of the dentition Blindness Large hands Kyphosis Slow-growing hair Delayed skeletal maturation Brittle hair Conductive hearing impairment Amenorrhea Abnormality of the pinna Postnatal growth retardation Teratoma Curly hair Abnormal eyelash morphology Accelerated skeletal maturation Abnormality of the nail Hypoplasia of dental enamel Neuroblastoma Pain Sacrococcygeal teratoma Acute lymphoblastic leukemia Palmoplantar keratoderma Arnold-Chiari type I malformation Biparietal narrowing Paresthesia Large for gestational age Reduced number of teeth Neonatal hypotonia Joint laxity Bilateral ptosis Feeding difficulties Hepatomegaly Frontal bossing Optic nerve dysplasia Broad forehead Brachydactyly Congestive heart failure Flexion contracture Bulbous nose Failure to thrive in infancy Dolichocephaly Hypermetropia Hydronephrosis Genu valgum Redundant skin Upslanted palpebral fissure Visual impairment Abnormality of skin pigmentation Hypoplasia of the corpus callosum Abnormality of the skeletal system Wide nasal bridge Joint hypermobility Nevus Bruising susceptibility Retinal dystrophy Abdominal distention Abnormal bleeding Vesicoureteral reflux Narrow palate Sensory neuropathy Coarctation of aorta Abnormality of the nervous system Low posterior hairline Cerebral visual impairment Depressivity Peripheral neuropathy Retinal detachment Poor suck Renal agenesis Retinal dysplasia Aggressive behavior Sparse eyebrow Coarse facial features Overlapping toe Abnormality of the sternum Gastroesophageal reflux Polyhydramnios Proptosis Abnormality of the kidney Autism Hyperkeratosis Constipation Pectus excavatum Muscle weakness Splenomegaly Cognitive impairment Low-set, posteriorly rotated ears Hyperhidrosis Respiratory tract infection Narrow forehead Obsessive-compulsive behavior Ectropion Sparse or absent eyelashes Hemangioma Submucous cleft hard palate Sleep apnea Cavernous hemangioma Excessive wrinkled skin Abnormality of hair texture Increased nuchal translucency Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormality of the genitourinary system Delayed gross motor development Abnormal aortic valve morphology Aplasia/Hypoplasia of the corpus callosum Endocarditis Optic nerve hypoplasia Melanocytic nevus Abnormality of the optic disc Hyperpigmentation of the skin Multiple cafe-au-lait spots Chronic otitis media Aspiration Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Frontal balding Generalized hyperpigmentation Hydroureter Sparse eyelashes Oculomotor apraxia Abnormal palate morphology Anterior creases of earlobe Subvalvular aortic stenosis Anal stenosis Alopecia of scalp Premature skin wrinkling Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Infantile spasms Open bite Hyperextensible skin Thick upper lip vermilion Hypoplasia of the zygomatic bone Deep philtrum Atopic dermatitis Heart murmur Absent eyelashes Enlarged kidney Absent eyebrow Relative macrocephaly Abnormal hair pattern Pleural effusion Deep palmar crease Palmoplantar hyperkeratosis Long palpebral fissure Thickened helices Abnormal mitral valve morphology Scaling skin Gastrointestinal dysmotility Abnormality of refraction Dystrophic fingernails Abnormal heart valve morphology Delayed CNS myelination Malnutrition Underdeveloped supraorbital ridges Abnormality of the testis Poor appetite Abnormality of the optic nerve Abnormal myocardium morphology Oxycephaly Abnormal tricuspid valve morphology Schwannoma Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Synovitis Preductal coarctation of the aorta Abnormality of the vertebral column Myelodysplasia Abnormality of the coagulation cascade Leukocytosis Abnormality of color vision Cystic hygroma Male infertility Abnormality of blood and blood-forming tissues Shield chest Gonadal dysgenesis Malignant hyperthermia Drusen Nonimmune hydrops fetalis Atrial flutter Restrictive cardiomyopathy Nasogastric tube feeding Postductal coarctation of the aorta Elevated alkaline phosphatase Hemiplegia/hemiparesis Retinal fold Vitreoretinopathy Cortical gyral simplification Abnormality of neuronal migration Cone/cone-rod dystrophy Abnormality of retinal pigmentation Optic disc pallor Pigmentary retinopathy Retinopathy Protruding ear Intrauterine growth retardation Abnormality of brainstem morphology Telangiectasia of the skin Generalized amyotrophy Telangiectasia Agenesis of corpus callosum Colpocephaly Prominent nasal bridge Generalized-onset seizure Intellectual disability, profound Lissencephaly Prominent occiput Severe postnatal growth retardation Type I lissencephaly Abnormality of extrapyramidal motor function Thick cerebral cortex Bitemporal hollowing Myoclonus Developmental regression Abnormal pyramidal sign Vertigo Patent foramen ovale Pterygium Patchy alopecia Oral aversion Agenesis of permanent teeth Nephroblastoma Precocious puberty Abnormal dermatoglyphics Narrow face Abnormal vertebral morphology Heterotopia Small nail Apraxia Otitis media Hypodontia Carcinoma Jaundice Pes planus Multiple plantar creases Prolonged neonatal jaundice Abnormality of the hairline Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormal location of ears Eyelid fasciculation Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Partial agenesis of the corpus callosum Poor coordination Arnold-Chiari malformation Dilatation Bicuspid aortic valve Azoospermia Plagiocephaly Amblyopia Left ventricular hypertrophy Primary amenorrhea Ventricular hypertrophy Wide intermamillary distance Triangular face Facial asymmetry Kyphoscoliosis Abdominal pain Hypogonadism Rod-cone dystrophy Headache High anterior hairline Overbite Enlarged cisterna magna Long foot Advanced eruption of teeth Thickened skin Periventricular leukomalacia Abnormal glucose tolerance Hamartomatous polyposis Intellectual disability, mild Hyperplasia of the maxilla Expressive language delay Gray matter heterotopias Small cell lung carcinoma Abnormality of the cerebral ventricles Fever Cafe-au-lait spot Deep-set nails Decreased body weight Camptodactyly of finger Microdontia Underdeveloped nasal alae Microcornea Flat face Cleft upper lip Paraplegia Toe syndactyly Carious teeth Spastic paraplegia Hip dislocation Finger syndactyly Blepharophimosis Hypotelorism Deeply set eye Hypoglycemia Polydactyly Arrhythmia Visual loss Syndactyly Gait disturbance Cleft palate Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Cerebral calcification Tetraparesis Increased mean platelet volume Abnormality of the ear Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Narrow nasal bridge Progressive spasticity Non-midline cleft lip Short palpebral fissure Hyperostosis Preaxial hand polydactyly Hand polydactyly Preaxial polydactyly Spastic tetraparesis Abnormality of the fingernails Abnormality of dental enamel Spastic paraparesis Paraparesis Dental crowding Abnormality of the metaphysis Abnormal form of the vertebral bodies Macrothrombocytopenia Total anomalous pulmonary venous return Taurodontia Resting tremor Immunodeficiency Dilated third ventricle Predominantly lower limb lymphedema Pseudobulbar signs Cataplexy Narcolepsy Excessive daytime sleepiness Abnormality of the cerebrospinal fluid Primitive reflex Head tremor Atrophy/Degeneration affecting the brainstem Abnormality of mitochondrial metabolism Midface retrusion Psychosis Neuronal loss in central nervous system Memory impairment Urinary incontinence Progressive cerebellar ataxia Polyneuropathy Mental deterioration Diabetes mellitus Dementia Babinski sign Tremor Recurrent infections Absent speech Anomalous pulmonary venous return Progressive microcephaly Protein-losing enteropathy Mild microcephaly Congenital nystagmus Abnormality of the periventricular white matter Pericardial effusion Unilateral renal agenesis Proximal placement of thumb Hypoalbuminemia Tented upper lip vermilion Widely spaced teeth Abnormal intestine morphology Exotropia Hypospadias Bilateral sensorineural hearing impairment Dandy-Walker malformation Ascites Tapered finger Highly arched eyebrow Downturned corners of mouth Smooth philtrum Synophrys Short philtrum Wide mouth Thin upper lip vermilion Reduced visual acuity Abnormality of the clavicle Fragile nails Open mouth Flared femoral metaphysis Osteopenia Alopecia Encephalopathy Malar flattening Hydrocephalus Dysphagia Failure to thrive Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Lumbar kyphosis Telecanthus Horizontal eyebrow Vertebral wedging Short fourth metatarsal Prominent fingertip pads Galactorrhea Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum EEG abnormality Feeding difficulties in infancy Broad face Hepatic steatosis Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Cardiomegaly Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Premature birth Intestinal malrotation Full cheeks Sleep disturbance Thick vermilion border Irritability Falls Long face Peripheral axonal neuropathy Ichthyosis Dry skin Astigmatism Nail dystrophy Pruritus Neurological speech impairment Pectus carinatum Scarring Erythema Dilation of lateral ventricles Large earlobe Low hanging columella Narrow nasal ridge 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Abnormal diaphysis morphology Thin anteverted nares Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Broad columella Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Mild global developmental delay Vertebral hyperostosis Talipes equinovarus Hydrocele testis Back pain Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Prolactin excess Inverted nipples Secondary amenorrhea Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Metatarsus adductus Flat occiput Slurred speech Pes cavus Coxa valga Short ribs Hoarse voice Joint contracture of the hand Broad thumb Hypertrichosis Nail dysplasia Lymphoma Round face Talipes Platyspondyly Retrognathia Chorioretinal dysplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Cyanosis, related diseases and genetic alterations Melanoma and Deeply set eye, related diseases and genetic alterations Myopia and Proximal muscle weakness, related diseases and genetic alterations Wide nasal bridge and Pancytopenia, related diseases and genetic alterations Lymphoma and Polydactyly, related diseases and genetic alterations Scoliosis and Flexion contracture, related diseases and genetic alterations

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