Downslanted palpebral fissures, and Bifid uvula

Diseases related with Downslanted palpebral fissures and Bifid uvula

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Bifid uvula that can help you solving undiagnosed cases.


Top matches:

High 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

High match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

High match EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE


Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

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Other less relevant matches:

High match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

High match APERT SYNDROME


Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

High match LOEYS-DIETZ SYNDROME


Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • High palate
  • Downslanted palpebral fissures


SOURCES: OMIM ORPHANET MENDELIAN

More info about LOEYS-DIETZ SYNDROME

High match AURICULOCONDYLAR SYNDROME


Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

High match FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2


Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

High match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

High match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Pes planus Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Hearing impairment Midface retrusion Flexion contracture Malar flattening Micrognathia Talipes equinovarus High palate Blue sclerae Patent ductus arteriosus Generalized hypotonia Scoliosis Proptosis Abnormal facial shape Feeding difficulties Respiratory distress Conductive hearing impairment Posteriorly rotated ears Facial asymmetry Depressed nasal bridge Patent foramen ovale Joint laxity Bruising susceptibility Delayed eruption of teeth Pectus excavatum Strabismus Global developmental delay Abnormality of the sternum Joint dislocation Low-set ears Skeletal dysplasia Ventriculomegaly Dilatation Aortic dissection Joint hypermobility

Rare Symptoms - Less than 30% cases


Brachycephaly Smooth philtrum Narrow mouth Thin upper lip vermilion Dental crowding Delayed speech and language development Hydronephrosis Decreased muscle mass Cataract Broad forehead Flat face Abnormality of the genitourinary system Renal dysplasia Wide nasal bridge Full cheeks Finger clinodactyly Ptosis Aortic root aneurysm Spondylolisthesis Arterial tortuosity Tall stature Arterial dissection Mitral valve prolapse Arachnodactyly Ectopia lentis Dolichocephaly Retrognathia Inguinal hernia Low-set, posteriorly rotated ears Choanal atresia Abnormality of the pinna Feeding difficulties in infancy Bicuspid aortic valve Pectus carinatum Dilatation of the cerebral artery Severe sensorineural hearing impairment Hip dislocation Striae distensae Cervical spine instability Aortic aneurysm Anemia Growth delay Aortic regurgitation Hernia Mitral regurgitation Hypertrichosis Camptodactyly of finger Tapered finger Dental malocclusion Camptodactyly Short metacarpal Platyspondyly Macrocephaly Webbed neck Joint contracture of the hand Frontal bossing Thin skin Mixed hearing impairment Tracheal stenosis Ulnar deviation of the hand Deep philtrum Fused cervical vertebrae Neurogenic bladder Ulcerative colitis Hip contracture Short metatarsal Pierre-Robin sequence Prominent supraorbital ridges Pyloric stenosis Dislocated radial head Stridor Coxa valga Hyperostosis Metaphyseal widening Broad nasal tip Congenital hip dislocation Postauricular skin tag Mandibular condyle hypoplasia Abnormality of the temporomandibular joint Hypoplasia of first ribs Mandibular condyle aplasia Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft at the superior portion of the pinna Cleft helix Abnormality of the crus of the helix Cryptorchidism Pointed chin Intellectual disability, mild Gastroesophageal reflux Scarring Short philtrum Pulmonic stenosis Delayed puberty Thick eyebrow Hirsutism Sclerotic vertebral endplates Bowing of the long bones Low anterior hairline Subglottic stenosis Abnormality of the dentition Large joint dislocations Osteoarthritis Motor delay Ventricular septal defect Hyporeflexia Kyphoscoliosis Neonatal hypotonia Abnormal cardiac septum morphology Small for gestational age Arthrogryposis multiplex congenita Long face Syncope Overgrowth Exotropia Unilateral breast hypoplasia Atrioventricular block Cerebral hemorrhage Reduced subcutaneous adipose tissue Celiac disease Long palpebral fissure Soft skin Hiatus hernia Broad face Cleft soft palate Graves disease Ascending aortic dissection Bilateral coxa valga Muscular hypotonia Abnormality of thyroid physiology Seizures Astigmatism Myopia Hypoplasia of the corpus callosum Atrial septal defect Hypoplastic superior helix Long philtrum Cerebellar hypoplasia Recurrent respiratory infections Pes cavus Prominent forehead Polydactyly Hypermetropia Anal atresia Bulbous nose Flared nostrils Postaxial polydactyly Small hand Short foot Prominent nose Hip dysplasia Dandy-Walker malformation Narrow forehead Hypotelorism Short palpebral fissure Sacral dimple Abnormal cortical gyration Lower limb asymmetry Question mark ear Obstructive sleep apnea Anterior open-bite malocclusion Hydrocephalus Large forehead Elliptocytosis Broad distal phalanx of finger Mild conductive hearing impairment Cleft hard palate Visual impairment Granulocytopenia Hypertension Optic atrophy Respiratory insufficiency Abnormality of cardiovascular system morphology Hypercalciuria Agenesis of corpus callosum Mandibular prognathia Broad neck Finger syndactyly Toe syndactyly Micromelia Hypoplasia of the maxilla Convex nasal ridge Submucous cleft hard palate Broad thumb Large fontanelles Mandibulofacial dysostosis Nephrocalcinosis Arnold-Chiari malformation Short phalanx of finger Irregular vertebral endplates Prominent superficial veins Broad femoral neck Flat capital femoral epiphysis Flattened epiphysis Thenar muscle atrophy Moderately short stature Cigarette-paper scars Absent palmar crease Hyperextensible skin Abnormality of the metaphysis Failure to thrive Short neck Clinodactyly Waddling gait Clinodactyly of the 5th finger Hypodontia Synophrys Talipes Thin vermilion border Postnatal growth retardation Esotropia Osteopenia Narrow palate Vertebral segmentation defect Overfolding of the superior helices Cupped ear Dural ectasia Uterine rupture Relative macrocephaly Gingival overgrowth Apnea Protruding ear Round face Preauricular skin tag Abnormality of the outer ear Atresia of the external auditory canal Facial cleft Pneumothorax External ear malformation Glossoptosis Ankylosis Short femoral neck Microglossia Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Snoring Difficulty in tongue movements Speech articulation difficulties Thoracic aortic aneurysm Atypical scarring of skin Absent septum pellucidum Macrocytic anemia Ovarian neoplasm Aplasia/Hypoplasia of the thumb Esophageal atresia Corneal erosion Ectopic anus Cloverleaf skull Brachyturricephaly Morphological abnormality of the semicircular canal Cervical C5/C6 vertebrae fusion Acrobrachycephaly Sparse eyebrow Subarachnoid hemorrhage Sparse and thin eyebrow Craniosynostosis Congenital diaphragmatic hernia Joint hyperflexibility Microtia Oral cleft Abnormal bleeding Epicanthus Cardiac arrest Emphysema Pulmonary artery aneurysm Increased arm span



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