Downslanted palpebral fissures, and Camptodactyly
Diseases related with Downslanted palpebral fissures and Camptodactyly
In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Camptodactyly that can help you solving undiagnosed cases.
Top matches:
Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.
CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs
Related symptoms:
- Hearing impairment
- Hypertelorism
- Micrognathia
- Sensorineural hearing impairment
- Abnormal facial shape
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME
Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.
AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant
Related symptoms:
- Short stature
- Scoliosis
- Cleft palate
- Ptosis
- Flexion contracture
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME
Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Related symptoms:
- Hypertelorism
- Strabismus
- Cleft palate
- Downslanted palpebral fissures
- Frontal bossing
SOURCES:
ORPHANET
MENDELIAN
More info about ANTLEY-BIXLER SYNDROME
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Other less relevant matches:
Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome
Related symptoms:
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
- Hypertelorism
SOURCES:
ORPHANET
MENDELIAN
More info about FREEMAN-SHELDON SYNDROME
Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3
Related symptoms:
- Intellectual disability
- Hearing impairment
- Microcephaly
- Downslanted palpebral fissures
- Atrial septal defect
SOURCES:
ORPHANET
MENDELIAN
More info about WAARDENBURG SYNDROME TYPE 3
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.
2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Growth delay
- Hypertelorism
SOURCES:
ORPHANET
MESH
MENDELIAN
More info about 2Q24 MICRODELETION SYNDROME
Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Camptodactyly
Symptoms // Phenotype |
% cases |
Camptodactyly of finger |
Uncommon - Between 30% and 50% cases
|
Hypertelorism |
Uncommon - Between 30% and 50% cases
|
Ptosis |
Uncommon - Between 30% and 50% cases
|
Flexion contracture |
Uncommon - Between 30% and 50% cases
|
Scoliosis |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Downslanted palpebral fissures and Camptodactyly. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Joint stiffness
Long philtrum
Strabismus
Global developmental delay
Intellectual disability
Hernia
Low-set, posteriorly rotated ears
Seizures
Short neck
Cleft palate
Hearing impairment
Wide nasal bridge
Narrow mouth
Abnormal facial shape
Rare Symptoms - Less than 30% cases
Wide nose
Mitral regurgitation
Craniosynostosis
Elbow flexion contracture
Knee flexion contracture
Hip dislocation
Hip contracture
Frontal bossing
Inguinal hernia
Malar flattening
Proptosis
Atrial septal defect
Arachnodactyly
Micrognathia
Growth delay
Failure to thrive
Cryptorchidism
Short nose
Nasal speech
Talipes equinovarus
Telecanthus
Blepharophimosis
Short stature
Interphalangeal joint contracture of finger
Depressed nasal ridge
Ulnar deviation of finger
Aortic dissection
Aortic aneurysm
Bulbous nose
Abnormality of the sternum
Striae distensae
Dilatation of the cerebral artery
Low-set ears
Pulmonary artery aneurysm
Cervical spine instability
Cardiomyopathy
Congestive heart failure
Kyphosis
Thin vermilion border
Astigmatism
Supernumerary nipple
Skeletal dysplasia
Hypospadias
Ventriculomegaly
Pes planus
Dolichocephaly
Dilatation
Platyspondyly
Joint hypermobility
Smooth philtrum
Bifid uvula
Hypertrichosis
Prominent nasal bridge
Macrocephaly
Gingival overgrowth
Square face
Low hanging columella
Joint dislocation
Prominent metopic ridge
Aortic regurgitation
Relative macrocephaly
Abnormality of the voice
Elevated serum creatine phosphokinase
Gastroesophageal reflux
Pugilistic facies
Dislocation of toes
Generalized hypotonia
Delayed speech and language development
Respiratory insufficiency
Respiratory distress
Cerebellar atrophy
Cerebral atrophy
Umbilical hernia
Broad nail
Abnormality of the foot
Poor speech
Full cheeks
Adducted thumb
Congenital contracture
Neonatal respiratory distress
Short columella
Breathing dysregulation
Pursed lips
Marked muscular hypertrophy
Progressive pes cavus
Pes cavus
Joint contracture of the hand
Posteriorly rotated ears
Retrognathia
Difficulty walking
Hypertrophic cardiomyopathy
Synophrys
Everted lower lip vermilion
Prominent nose
Ventricular hypertrophy
Congenital hip dislocation
Camptodactyly of toe
Prominent supraorbital ridges
Myopia
Skeletal muscle hypertrophy
Hallux valgus
Broad palm
Eclabion
Limited elbow movement
Brachyturricephaly
Hyperplasia of the maxilla
Hypoplasia of the corpus callosum
White hair
Feeding difficulties
Brachycephaly
Pterygium
Vertebral fusion
Distal arthrogryposis
Spondylolisthesis
Multiple pterygia
Anteverted nares
Abnormality of cardiovascular system morphology
Narrow chest
Cutaneous syndactyly
Talipes
Recurrent fractures
Abnormality of the ribs
Choanal atresia
Delayed cranial suture closure
Femoral bowing
Underdeveloped supraorbital ridges
Turricephaly
Abnormal palate morphology
Hemivertebrae
Abnormal renal morphology
Congenital sensorineural hearing impairment
Sensorineural hearing impairment
Depressed nasal bridge
Clinodactyly
Flat face
High, narrow palate
Hypoplasia of the maxilla
Bilateral sensorineural hearing impairment
Narrow face
Abnormality of the wrist
Arthrogryposis multiplex congenita
Ulnar deviation of the hand
Lacrimal duct atresia
Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the wrist
Aplasia/Hypoplasia involving the nose
Limited wrist movement
Syndactyly
Pectus excavatum
Hypoplasia of the zygomatic bone
Narrow pelvis bone
Bullet-shaped distal phalanx of the hallux
Short philtrum
Abnormality of the upper limb
Atelectasis
Cataract
Behavioral abnormality
Microphthalmia
Neonatal hypotonia
Autistic behavior
Coloboma
Small for gestational age
Acrocyanosis
Severe global developmental delay
Toe syndactyly
Long fingers
Central apnea
Small face
Hand clenching
Abnormal oral frenulum morphology
Abnormality iris morphology
Abnormality of finger
Tracheomalacia
Elbow ankylosis
Dimple chin
Abnormality of the dentition
Polyhydramnios
Deeply set eye
Feeding difficulties in infancy
Neurological speech impairment
Underdeveloped nasal alae
Oligohydramnios
Malignant hyperthermia
Prenatal movement abnormality
Synostosis of carpal bones
Absent palmar crease
Microcephaly
Spastic paraplegia
Thick eyebrow
Abnormality of the face
Tented upper lip vermilion
Narrow nasal bridge
Cutaneous finger syndactyly
Enlarged naris
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