Downslanted palpebral fissures, and Clinodactyly

Diseases related with Downslanted palpebral fissures and Clinodactyly

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Clinodactyly 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 OTOFACIOCERVICAL SYNDROME 2; OTFCS2


Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Medium match SECKEL SYNDROME 5; SCKL5


Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

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Other less relevant matches:

Medium match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Medium match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Medium match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Medium match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Medium match AL KAISSI SYNDROME; ALKAS


Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Clinodactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Clinodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Wide nasal bridge Short stature Narrow mouth Microcephaly Clinodactyly of the 5th finger High palate Micrognathia Seizures Pes planus Delayed skeletal maturation Retrognathia Frontal bossing Abnormality of the skeletal system Strabismus Prominent forehead Craniosynostosis Posteriorly rotated ears Hearing impairment Telecanthus Abnormal facial shape Small hand Sparse scalp hair Long philtrum Depressed nasal bridge Intrauterine growth retardation Wide nose Growth delay

Rare Symptoms - Less than 30% cases


Abnormal cardiac septum morphology Hyperactivity Convex nasal ridge Deeply set eye Triangular face Short foot Brachycephaly Mild global developmental delay Hypermetropia Sandal gap Abnormality of dental enamel Failure to thrive Hypoplasia of the corpus callosum Epicanthus Broad nasal tip Pointed chin Overgrowth Thin upper lip vermilion High forehead Dental malocclusion Blepharophimosis Hypoplasia of the maxilla Syndactyly Long eyelashes Microretrognathia High, narrow palate Tapered finger Short nose Ptosis Narrow face Short neck Micropenis Decreased body weight Muscular hypotonia Motor delay Ventriculomegaly Short chin Sacral dimple Midface retrusion Inguinal hernia Cerebellar atrophy Hernia Behavioral abnormality Hemivertebrae Long nose Tented philtrum Macrodontia Nevus flammeus of the forehead Long face Downturned corners of mouth Thick vermilion border Malar rash Everted lower lip vermilion Epileptic encephalopathy Broad-based gait Plagiocephaly Tented upper lip vermilion Delayed ability to walk Deep palmar crease Severe intrauterine growth retardation High anterior hairline Short attention span Autism Hypoplasia of penis Attention deficit hyperactivity disorder Cranial hyperostosis Delayed eruption of teeth Microcornea Broad long bones Underdeveloped nasal alae Fine hair Large fontanelles Dental crowding Sparse eyelashes Toe syndactyly Cutaneous syndactyly of toes Hypoplasia of teeth Large earlobe Abnormality of dental morphology Spinal cord compression Narrow nose Basal ganglia calcification Thin vermilion border Persistent pupillary membrane Narrow forehead Disproportionate tall stature Smooth philtrum Hyperostosis Tall stature Synophrys Congenital hip dislocation Lissencephaly Large for gestational age Abnormality of the pinna Macrodontia of permanent maxillary central incisor Postnatal growth retardation Cataract 2-4 toe cutaneous syndactyly Myopia Abnormality of the dentition 4-5 finger syndactyly Microphthalmia Fifth finger distal phalanx clinodactyly Short palpebral fissure Trigonocephaly Microtia Mastoiditis Cutaneous syndactyly Cupped ear Preauricular pit Mixed hearing impairment Down-sloping shoulders Lacrimal duct stenosis Alacrima Cryptorchidism Blue sclerae Severe short stature Prominent nasal bridge Hypodontia Sloping forehead Oligodontia Clitoral hypertrophy Proportionate short stature Abnormal cortical gyration Scapular winging Gliosis Selective tooth agenesis Congenital sensorineural hearing impairment Sensorineural hearing impairment Flexion contracture Malar flattening Camptodactyly of finger Flat face Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Depressed nasal ridge Ulnar deviation of finger Carious teeth Abnormality of the wrist 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 Intellectual disability, moderate 11 pairs of ribs Large beaked nose Upslanted palpebral fissure Hip dysplasia Broad philtrum Sagittal craniosynostosis Small pituitary gland Scoliosis Cognitive impairment Glaucoma Joint hyperflexibility Reduced number of teeth Recurrent otitis media Cachexia Cone-shaped epiphysis Prematurely aged appearance Abnormality of earlobe Absent earlobe Absent speech Hypospadias Encephalopathy Arnold-Chiari malformation Microdontia Macrocephaly Scaphocephaly Pneumonia Mandibular prognathia Hepatosplenomegaly Anxiety Aggressive behavior Stereotypy Recurrent pneumonia Finger clinodactyly Feeding difficulties Otitis media Brachydactyly Abnormal heart morphology Constipation Coarse facial features Feeding difficulties in infancy Wide mouth Neurological speech impairment Thick eyebrow Decreased head circumference



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