Epicanthus, and Bifid uvula

Diseases related with Epicanthus and Bifid uvula

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

Top matches:

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

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

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Other less relevant matches:

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

High match ALG3-CDG

ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Is also known as mfdm syndrome|growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mfdm|mandibulofacial dysostosis, guion-almeida type|mandibulofacial dysostosis with microcephaly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

High match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Bifid uvula. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Wide nasal bridge Seizures Downslanted palpebral fissures Abnormality of the pinna Facial asymmetry Hypertelorism Generalized hypotonia Feeding difficulties Abnormal heart morphology Depressivity Deeply set eye Syndactyly Delayed speech and language development Frontal bossing Failure to thrive Cryptorchidism Hypoplasia of the maxilla Hypoplasia of the corpus callosum Short nose Absent speech Telecanthus Strabismus Flexion contracture Abnormality of the dentition Intellectual disability, mild Midface retrusion Respiratory distress Malar flattening

Rare Symptoms - Less than 30% cases

Single transverse palmar crease Increased number of teeth Pierre-Robin sequence Myopia Dysarthria Pectus excavatum Short neck Talipes equinovarus Scoliosis Prominent nasal tip Clinodactyly Growth delay Trigonocephaly Highly arched eyebrow Visual impairment Microtia Autistic behavior Conductive hearing impairment Microretrognathia Autism Long philtrum Brachycephaly Agenesis of corpus callosum Coloboma Muscular hypotonia of the trunk Protruding ear Small for gestational age Bulbous nose Motor delay Abnormality of cardiovascular system morphology Finger syndactyly Triangular face Webbed neck Sparse hair Sparse and thin eyebrow Sparse eyebrow Abnormal renal morphology Submucous cleft hard palate Delayed myelination Mandibulofacial dysostosis Ptosis Abnormality of the kidney Abnormality of the skeletal system Feeding difficulties in infancy Smooth philtrum Arthrogryposis multiplex congenita Muscular hypotonia Hyperhidrosis Upslanted palpebral fissure Anemia Anteverted nares Sensorineural hearing impairment Tremor Stenosis of the external auditory canal Hypertension Absent tragus Abnormality of the antihelix Cleft lip Morphological abnormality of the middle ear Underdeveloped tragus Proteinuria Polydactyly Hydrocephalus Alopecia Dilatation Large earlobe Renal insufficiency Brachydactyly Moderate global developmental delay Accessory oral frenulum Prominent glabella Skin tags Abnormality of chromosome segregation Glossoptosis Ventricular septal defect Pulmonic stenosis Bipolar affective disorder Abnormal cardiac septum morphology Delayed skeletal maturation Patent ductus arteriosus Atrial septal defect Receptive language delay Carious teeth Central sleep apnea Expressive language delay Poor fine motor coordination Abnormality of the pharynx Echolalia Hypocholesterolemia Speech apraxia Everted lower lip vermilion Choanal atresia Esophageal atresia High hypermetropia Slender finger Tracheoesophageal fistula Preaxial hand polydactyly Cupped ear Proximal placement of thumb Overfolded helix Dysphasia Radioulnar synostosis Poor eye contact Deep philtrum Atresia of the external auditory canal Abnormality of the outer ear Bicuspid aortic valve Preauricular skin tag Progressive microcephaly Postnatal microcephaly Abnormality of the cerebral white matter Deviation of finger Oral cleft Sparse scalp hair Ectopia lentis Sparse eyelashes Coxa valga Hypohidrosis Amblyopia Recurrent otitis media Osteoarthritis Thick lower lip vermilion Aplasia cutis congenita High myopia Cerebral calcification Otitis media Esotropia Ectodermal dysplasia Retinal detachment Flat face Genu valgum Thickened calvaria Vitreoretinopathy Hypotrichosis Abnormal vitreous humor morphology Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Hypoplastic frontal sinuses Radial bowing Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Congenital cataract Platyspondyly Stage 5 chronic kidney disease Milia Abnormal cortical gyration Myelomeningocele Arachnoid cyst Median cleft lip Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Molar tooth sign on MRI Abnormality of the pancreas Radial deviation of finger Polycystic kidney dysplasia Cutaneous syndactyly Hepatic fibrosis Hypoplasia of dental enamel Underdeveloped nasal alae Abnormal cerebellum morphology Postaxial polydactyly Bifid tongue Ovarian cyst Arthralgia Alveolar ridge overgrowth Proptosis Glaucoma Cataract Nystagmus Trident hand Abnormality of toe Multiple glomerular cysts Gray matter heterotopias Dry hair Hypothalamic hamartoma Tongue nodules Lobulated tongue Narrow naris Abnormality of dental morphology Pancreatic cysts Hepatic cysts Porencephalic cyst Open bite Hypoplastic nipples Oral-pharyngeal dysphagia Intellectual disability, severe Thin vermilion border Neurological speech impairment Short philtrum Thin upper lip vermilion Prominent forehead Dystonia Spasticity Downturned corners of mouth Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Weak voice Wide nose Round face Chronic pain Clinodactyly of the 5th finger Ophthalmoplegia Camptodactyly of finger Retinopathy Hyperlordosis Camptodactyly Kyphoscoliosis Long upper lip Wide intermamillary distance Bruxism Prominent metopic ridge Partial agenesis of the corpus callosum Long nose Widely spaced teeth Absence seizures Short palpebral fissure Dysesthesia Facial paralysis Talipes Congenital diaphragmatic hernia Muscle weakness Granulocytopenia Broad neck Severe sensorineural hearing impairment Macrocytic anemia Mixed hearing impairment Posteriorly rotated ears Peripheral neuropathy Hernia Bilateral conductive hearing impairment Flat occiput Brittle hair Long eyelashes Thick eyebrow Pain Skeletal muscle atrophy Axonal degeneration Postural instability Scapular winging Narrow palpebral fissure Narrow face Hoarse voice Hypotelorism Sensory impairment Paresthesia Fatigue Blepharophimosis Paralysis Myalgia Rigidity Narrow mouth Hyporeflexia Edema Abnormality of the foot Abnormality of skin pigmentation Language impairment Clinodactyly of the 5th toe Mandibular prognathia Hypothyroidism Hyperactivity Dysphagia Cognitive impairment Food intolerance Type I transferrin isoform profile EEG abnormality Portal fibrosis Decreased light- and dark-adapted electroretinogram amplitude Villous atrophy Severe vision loss Long fingers Abnormality of vision Gastroesophageal reflux Neonatal hypotonia Joint contracture of the hand Dental crowding Failure to thrive in infancy Patent foramen ovale Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Stereotypy Abnormality of the cardiovascular system Anxiety Dental malocclusion Hypermetropia Broad forehead Attention deficit hyperactivity disorder Wide mouth Apnea Low-set, posteriorly rotated ears Adducted thumb Cerebral visual impairment Limitation of joint mobility Overlapping toe Down-sloping shoulders Thoracolumbar scoliosis Distal arthrogryposis Cutaneous finger syndactyly Decreased muscle mass Bilateral talipes equinovarus Pterygium Decreased hip abduction Knee flexion contracture Congenital hip dislocation Abnormal vertebral morphology Short phalanx of finger Interphalangeal joint contracture of finger Lumbar hyperlordosis Dandy-Walker malformation Abnormality of the rib cage Ulnar deviation of the hand or of fingers of the hand Small nail Macrotia Hypsarrhythmia Nail dysplasia Iris coloboma Arachnodactyly Severe global developmental delay Abnormality of the eye Cerebral atrophy Camptodactyly of toe Hypertonia Diarrhea Cerebellar atrophy Vomiting Blindness Optic atrophy Hyperreflexia Small distal femoral epiphysis


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