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:

Medium match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


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

Medium match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM 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

Medium match ANTLEY-BIXLER 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:

Medium match FREEMAN-SHELDON SYNDROME


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

Medium match WAARDENBURG SYNDROME TYPE 3


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

Medium match 2Q24 MICRODELETION SYNDROME


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

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Medium match MEESTER-LOEYS SYNDROME; MRLS


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

Medium match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Medium match CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD


CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

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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