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.
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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
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
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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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
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
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
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
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
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
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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