Ataxia, and Webbed neck

Diseases related with Ataxia and Webbed neck

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


Top matches:

Medium match SLC35A1-CDG


SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

SLC35A1-CDG Is also known as cdg iif|congenital disorder of glycosylation type iif|cmp-sialic acid transporter deficiency|congenital disorder of glycosylation type 2f|cdg-iif|carbohydrate deficient glycoprotein syndrome type iif|cdg2f|cdg syndrome type iif|cdgiif

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SLC35A1-CDG

Medium 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

Medium match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

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Other less relevant matches:

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

Medium 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

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Medium match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Low match ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS


ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Low match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Webbed neck

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases


Low posterior hairline

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Short stature Cryptorchidism Strabismus Sensorineural hearing impairment Ptosis Long philtrum Pulmonic stenosis Hernia Posteriorly rotated ears Cardiomyopathy Thrombocytopenia Atrial septal defect Cataract Depressed nasal bridge Myopia Inguinal hernia Abnormal cardiac septum morphology Behavioral abnormality Dental malocclusion Downslanted palpebral fissures High, narrow palate Hydrocephalus Anteverted nares Macrocephaly Proptosis Abnormality of cardiovascular system morphology Feeding difficulties Neoplasm Pectus excavatum Abnormal heart morphology Short nose Intellectual disability, severe Gastroesophageal reflux Upslanted palpebral fissure Thin upper lip vermilion Vomiting Hydronephrosis Camptodactyly Clinodactyly of the 5th finger Splenomegaly Edema Hypertrophic cardiomyopathy Hypertension Retinal detachment Epicanthus Dandy-Walker malformation Low-set, posteriorly rotated ears Lymphedema Relative macrocephaly Growth delay Polyhydramnios Prominent forehead Bulbous nose Abnormality of the dentition Cleft upper lip Patent ductus arteriosus Facial asymmetry Flexion contracture Wide nasal bridge Abnormality of the skeletal system Ventriculomegaly Abnormal bleeding Thin vermilion border Optic atrophy Cleft palate Talipes equinovarus Hypospadias

Rare Symptoms - Less than 30% cases


Aggressive behavior Amblyopia Osteopenia Coarse facial features Umbilical hernia Clumsiness Kyphosis Cystic hygroma Accelerated skeletal maturation Telecanthus Wide intermamillary distance Triangular face Syndactyly Postnatal growth retardation Preauricular pit Plagiocephaly Hyperhidrosis Autism Mandibular prognathia Congenital cataract Cleft lip Postaxial polydactyly Renal cyst Hypoglycemia Depressivity Shield chest Toe syndactyly Congenital diaphragmatic hernia Delayed skeletal maturation Abnormality of the ribs Headache Neuroblastoma Abnormality of the vertebral column Constipation Abnormality of the kidney Retrognathia Fever Congestive heart failure Deep philtrum Failure to thrive in infancy Pleural effusion Cubitus valgus Large for gestational age Hydroureter Abnormality of digit Neurofibromas Poor appetite Poor suck Multiple lentigines Abnormality of the pinna Thickened helices Arnold-Chiari type I malformation Thick upper lip vermilion Abnormality of the gastrointestinal tract Enlarged kidney Conductive hearing impairment Hyperextensible skin Aplasia/Hypoplasia of the corpus callosum Irritability Short sternum Cognitive impairment Vertebral fusion Sparse hair Pectus carinatum Leukemia Neurological speech impairment Hypermetropia Astigmatism Bruising susceptibility Oculomotor apraxia Thick vermilion border Sleep disturbance Abdominal distention Vesicoureteral reflux Intestinal malrotation Coarctation of aorta Decreased body weight Cerebral visual impairment Aspiration Respiratory tract infection Hypotrichosis Hypertonia Synophrys Pericardial effusion Overlapping toe Proximal placement of thumb Sparse eyebrow Widely spaced teeth Narrow forehead Nevus Tapered finger Highly arched eyebrow Downturned corners of mouth Blindness Wide mouth Muscle weakness Cerebral cortical atrophy Cerebellar hypoplasia Absent speech Macrothrombocytopenia Heart murmur Hypotelorism Short philtrum Proteinuria Pneumonia Encephalopathy Respiratory distress Dysarthria Abnormality of the sternum Polydactyly Falls Hepatomegaly Muscular hypotonia Fused cervical vertebrae Delayed speech and language development Failure to thrive Cervical C2/C3 vertebral fusion Bilateral ptosis Broad foot Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Furrowed tongue Renal neoplasm Duodenal atresia Bilateral talipes equinovarus Diastasis recti Polysplenia Low hanging columella Abnormal lung lobation Mitral valve prolapse Transposition of the great arteries Broad palm Ureteral duplication Bundle branch block Platyspondyly Supernumerary nipple Joint hyperflexibility Vertebral segmentation defect Unsteady gait Prolonged QT interval Hyperlordosis Esophageal stenosis Ankyloglossia Short sacroiliac notch Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Visual loss Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Posterior helix pit Short 2nd finger Increased IgE level Osteoporosis Penoscrotal hypospadias Broad toe Embryonal neoplasm Hepatoblastoma Pes planus Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Cupped ear Lumbar hyperlordosis Hemiplegia Increased susceptibility to fractures Short distal phalanx of finger Postaxial hand polydactyly Overgrowth Nail dysplasia Bifid uvula Broad nasal tip Macroglossia Disproportionate short-trunk short stature Short foot Unilateral cryptorchidism Wide nose Short palm Vertebral compression fractures Long toe Abnormality of the intervertebral disk Finger syndactyly Camptodactyly of finger Otitis media with effusion Aplasia/Hypoplasia of the lens Reduced renal corticomedullary differentiation Hypothyroidism Dysplastic aortic valve Hypoplastic radial head Abnormality of the umbilicus Hypoplasia of penis Facial hypotonia Nephroblastoma Congenital hip dislocation Dysplastic tricuspid valve Cyst of the ductus choledochus Long fingers Abnormality of the voice Abnormality of the hand Subcapsular cataract Iris hypopigmentation Narrow palpebral fissure Thoracic kyphosis Posterior subcapsular cataract Multicystic kidney dysplasia Cardiac arrest Small nail Hoarse voice Short toe Preauricular skin tag Tall stature Renal dysplasia Broad thumb Abnormality of the genital system Omphalocele Abnormal eyebrow morphology Cerebellar vermis hypoplasia Abnormality of the antihelix Cleft lower lip Intrauterine growth retardation Two carpal ossification centers present at birth Limited elbow extension Aspiration pneumonia Ectopic anus Hiatus hernia Abnormal cranial nerve morphology Lissencephaly Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Hypertropia Opisthotonus Esophagitis Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Sprengel anomaly Cutis marmorata Tricuspid regurgitation Clubbing Cutaneous syndactyly Scrotal hypoplasia Self-injurious behavior Pyloric stenosis Heterotopia Apraxia Incoordination Phocomelia Hypoplastic male external genitalia Abnormality of the shoulder Congenital muscular torticollis Curly eyelashes Aplasia of the ulna Absent hand Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Gastroparesis Supernumerary ribs Hand oligodactyly Hypoplastic labia majora Micropenis Agenesis of corpus callosum Perimembranous ventricular septal defect Arthrogryposis multiplex congenita Abnormality of eye movement Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Optic nerve coloboma Abnormality of the foot Short metatarsal Abnormality of the urinary system Anemia Autistic behavior Small hand Hirsutism Pulmonary hypoplasia Thick eyebrow Vertigo Micromelia Hip dislocation Small for gestational age Prominent nasal bridge Craniosynostosis Flat face Pallor Single transverse palmar crease Duplication of internal organs Visual impairment Anal atresia Malrotation of colon Narrow mouth Glaucoma Hyperactivity Brachycephaly Microphthalmia Severe short stature Abnormal sacrum morphology Spina bifida Delayed eruption of teeth Adducted thumb Recurrent urinary tract infections Hypoplasia of the radius Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Low anterior hairline Long eyelashes Hypoplasia of the brainstem Overlapping fingers Cerebellar dysplasia Hemiplegia/hemiparesis Choanal atresia Projectile vomiting Hand clenching Hypertrichosis Left-to-right shunt Renal hypoplasia Blue sclerae Kinked brainstem High myopia Microdontia Otitis media Renal hypoplasia/aplasia Sepsis Microcornea Spasticity Anterior creases of earlobe Arrhythmia Nail dystrophy Palmoplantar keratoderma Hepatic steatosis Retinal dystrophy Joint hypermobility Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Dry skin Genu valgum Abnormality of the cerebral white matter Dolichocephaly Pruritus Premature birth Scarring Erythema Feeding difficulties in infancy Abnormality of the eye EEG abnormality Macrotia High forehead Hyperkeratosis Alopecia Cerebral atrophy Malar flattening Dysphagia Full cheeks Growth hormone deficiency Limitation of neck motion Cutis laxa Ectropion Scaling skin Brittle hair Redundant skin Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Abnormal palate morphology Sparse eyelashes Progressive visual loss Narrow palate Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Thickened skin Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Cardiomegaly Abnormality of the cardiovascular system Frontal bossing Acetabular dysplasia Chronic otitis media Tics Recurrent infections Immunodeficiency Cerebellar atrophy Hypoplasia of the corpus callosum Decreased platelet glycoprotein Ib Abnormal megakaryocyte morphology Abnormal platelet granules Pulmonary hemorrhage Giant platelets Subcutaneous hemorrhage Orofacial dyskinesia Hypoxemia Cellulitis Reduced visual acuity Prolonged bleeding time Hallux valgus Flat occiput Aortic regurgitation Recurrent bacterial infections Aminoaciduria Neutropenia Poor speech Generalized tonic-clonic seizures Deeply set eye Hyporeflexia Renal insufficiency Midface retrusion Smooth philtrum Nemaline bodies Total anomalous pulmonary venous return Thoracolumbar scoliosis Centrally nucleated skeletal muscle fibers Mild short stature Frequent falls Underdeveloped nasal alae Everted lower lip vermilion Myopathy Motor delay Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Increased mean platelet volume Anomalous pulmonary venous return Ascites Protein-losing enteropathy Mild microcephaly Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Unilateral renal agenesis Hypoalbuminemia Tented upper lip vermilion Abnormal intestine morphology Progressive microcephaly Exotropia Bilateral sensorineural hearing impairment Renal agenesis Melanocytic nevus Obsessive-compulsive behavior Obesity Broad forehead Radial deviation of finger Myelodysplasia Patent foramen ovale Elevated alkaline phosphatase Pterygium Arnold-Chiari malformation Bicuspid aortic valve Azoospermia Left ventricular hypertrophy Primary amenorrhea Ventricular hypertrophy Amenorrhea Kyphoscoliosis Leukocytosis Abdominal pain Hypogonadism Rod-cone dystrophy Dilatation Intellectual disability, mild Brachydactyly Pain Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Abnormality of the coagulation cascade Abnormality of color vision Cutaneous T-cell lymphoma Amegakaryocytic thrombocytopenia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding 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 Hypoplastic aortic arch Male infertility Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Synovitis Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Inappropriate crying Morphological abnormality of the gastrointestinal tract Absent eyebrow Underdeveloped supraorbital ridges Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Woolly hair Short attention span Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Anal stenosis Delayed CNS myelination Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Infantile spasms Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Malnutrition Open bite Abnormality of the testis Abnormal myocardium morphology Puberty and gonadal disorders Frontal balding Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Endocarditis Abnormality of refraction Increased nuchal translucency Sparse or absent eyelashes Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Left hemiplegia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Ectodermal dysplasia, related diseases and genetic alterations Tremor and Low posterior hairline, related diseases and genetic alterations Epicanthus and Triangular face, related diseases and genetic alterations Ptosis and Gait ataxia, related diseases and genetic alterations Cleft palate and Split hand, related diseases and genetic alterations

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