Abnormal facial shape, and Dental malocclusion

Diseases related with Abnormal facial shape and Dental malocclusion

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Dental malocclusion that can help you solving undiagnosed cases.


Top matches:

Medium match FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME


Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Medium match RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME


RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Cataract
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME

Medium match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Medium match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2


Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium 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

Medium match CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY


Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY Is also known as cdg syndrome type iu|carbohydrate deficient glycoprotein syndrome type iu|congenital disorder of glycosylation type 1u|congenital disorder of glycosylation type iu|cdg1u|dpm2-cdg|cdg-iu|cdg iu|cdgiu|cmd with intellectual disability and severe epilepsy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

Medium match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dental malocclusion

Symptoms // Phenotype % cases
Macrocephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Dental malocclusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Micrognathia Respiratory distress Hypertelorism Posteriorly rotated ears Low-set ears Low-set, posteriorly rotated ears Apnea Hearing impairment Downslanted palpebral fissures Mandibular prognathia

Rare Symptoms - Less than 30% cases


Respiratory tract infection Neonatal hypotonia Epicanthus Wide nasal bridge Flexion contracture Fatigable weakness Short nose Thin upper lip vermilion Weak cry Gowers sign Easy fatigability Protruding ear Hypotelorism Scoliosis Decreased fetal movement Poor suck Intellectual disability Cleft palate Snoring Seizures Mandibular condyle aplasia Question mark ear Mandibular condyle hypoplasia Hypoplastic superior helix Speech articulation difficulties Overfolding of the superior helices Ankylosis Cleft at the superior portion of the pinna Cupped ear Preauricular skin tag Microcephaly Arthrogryposis multiplex congenita Dental crowding Round face Full cheeks Narrow mouth Long face Glossoptosis Short stature Strabismus Frontal bossing Midface retrusion Upslanted palpebral fissure Facial palsy Microphthalmia Facial asymmetry Muscle weakness Prominent nose Abnormality of the outer ear Atresia of the external auditory canal Facial cleft External ear malformation Obstructive sleep apnea Fatigue Microglossia Bifid uvula Impaired mastication Hamartoma of tongue Difficulty in tongue movements Anterior open-bite malocclusion Abnormality of the temporomandibular joint Stenosis of the external auditory canal Sensorineural hearing impairment Abnormality of the pinna Median cleft lip and palate Median cleft lip Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Single median maxillary incisor Flat nasal alae Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Hypoplasia of first ribs Vein of Galen aneurysmal malformation Periauricular skin pits Sparse and thin eyebrow Polyhydramnios Hypertrophic cardiomyopathy Pulmonic stenosis Webbed neck Wide intermamillary distance Thick lower lip vermilion Sparse eyebrow Short neck Cubitus valgus Bilateral cryptorchidism Abnormality of coagulation Prolonged bleeding time Curly hair Blue irides High anterior hairline Atrial septal defect Ventricular septal defect Aplasia/Hypoplasia of the external ear Cerebellar hypoplasia Flat occiput Cleft helix Abnormality of the crus of the helix Postauricular skin tag Optic atrophy Elevated serum creatine phosphokinase Generalized myoclonic seizures Depressed nasal bridge Postnatal microcephaly Severe muscular hypotonia Trigonocephaly Congenital contracture Myopathic facies Primitive reflex Cryptorchidism Partial agenesis of the corpus callosum Oral cleft Holoprosencephaly Nail dysplasia Hyperostosis Increased intracranial pressure Respiratory insufficiency Tetraparesis Small nail Overgrowth Falls Cutaneous finger syndactyly Generalized muscle weakness Frequent falls Narrow palpebral fissure Multiple joint contractures Prominent occiput Gait ataxia Short finger Decreased size of nerve terminals Syndactyly Motor delay Respiratory failure Proximal muscle weakness Skeletal muscle atrophy Limb muscle weakness Dysarthria Muscle cramps Respiratory insufficiency due to muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Muscular hypotonia Ophthalmoparesis Decreased muscle mass Abnormality of the immune system Sclerotic vertebral endplates Limb-girdle muscle weakness Type 2 muscle fiber atrophy Gastroesophageal reflux Hirsutism Omphalocele Wide nose Convex nasal ridge Brachydactyly Anteverted nares Hydrocephalus Agenesis of corpus callosum Macrotia Cleft lip Iris atrophy Retrognathia Broad forehead Smooth philtrum Dysphagia Iris coloboma Highly arched eyebrow Visual loss Ectopia lentis Large beaked nose Abnormality of the skeletal system Upper airway obstruction Gait disturbance Mottled pigmentation Cone dysfunction syndrome Bulbar palsy Widely spaced teeth Retinal dystrophy Central apnea Posterior synechiae of the anterior chamber Long penis Nyctalopia Retinopathy Temporomandibular joint ankylosis Rod-cone dystrophy Malar flattening Cataract Pectus excavatum of inferior sternum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Tetraplegia, related diseases and genetic alterations Tremor and Type II diabetes mellitus, related diseases and genetic alterations Low-set ears and Asthma, related diseases and genetic alterations Pain and Delayed puberty, related diseases and genetic alterations Cataract and Burkitt lymphoma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more