Micrognathia, and Protruding ear

Diseases related with Micrognathia and Protruding ear

In the following list you will find some of the most common rare diseases related to Micrognathia and Protruding ear that can help you solving undiagnosed cases.

Top matches:

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

AMCNMY is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY

Other less relevant matches:

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM 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

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|richieri-costa-pereira syndrome|rcps|short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RICHIERI COSTA-PEREIRA SYNDROME

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Top 5 symptoms//phenotypes associated to Micrognathia and Protruding ear

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Facial asymmetry Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Protruding ear. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Malar flattening Microretrognathia Prominent forehead Hypertelorism Narrow mouth Bifid uvula Short nose Hearing impairment Depressed nasal bridge Sensorineural hearing impairment External ear malformation Preauricular skin tag Abnormality of the pinna Hypoplasia of the maxilla Dental crowding Respiratory distress Talipes equinovarus Abnormal facial shape Feeding difficulties Generalized hypotonia Growth delay Midface retrusion Intellectual disability Microcephaly High palate Failure to thrive

Rare Symptoms - Less than 30% cases

Ptosis Short philtrum Pansynostosis Abnormality of the outer ear Retrognathia Downturned corners of mouth Telecanthus Ventricular septal defect Atrial septal defect Ventriculomegaly Intrauterine growth retardation Mandibular prognathia Blepharophimosis Abnormal cardiac septum morphology Thin vermilion border Macrocephaly Hydrocephalus Prominent nose Epicanthus Frontal bossing Delayed speech and language development Short palpebral fissure Small for gestational age Spasticity Downslanted palpebral fissures Deeply set eye Agenesis of corpus callosum Hip dislocation Round face Hernia Osteopenia Conductive hearing impairment Seizures Mixed hearing impairment Lower eyelid coloboma Wide nasal bridge Scoliosis Stenosis of the external auditory canal Cupped ear Motor delay Recurrent fractures Eyelid coloboma Coloboma Glossoptosis Osteoporosis Hip subluxation Absent foot Radial deviation of the hand Hypoplasia of the epiglottis Acetabular dysplasia Redundant skin Tibial deviation of toes Cortical gyral simplification Aplasia of the epiglottis Agenesis of mandibular central incisor Abnormality of the aryepiglottic fold Short tibia Cleft lower alveolar ridge Cleft mandible Growth abnormality Cutis laxa Congenital hip dislocation Large fontanelles Cryptorchidism Abnormality of the larynx Hypoplasia of the ulna Pierre-Robin sequence Short thumb Round ear Diminished ability to concentrate Posterior plagiocephaly Clinodactyly of the 5th finger Short metacarpal Webbed neck Narrow nasal ridge Limb undergrowth Short phalanx of finger Hoarse voice Fibular hypoplasia Colpocephaly Prominent superficial veins Premature skin wrinkling Hypoplasia of the radius Abnormality of the hand Abnormality of the voice Proximal placement of thumb Hypoplasia of the corpus callosum Bilateral talipes equinovarus Mesomelia Bowing of the long bones Triangular face Intellectual disability, severe Asthma Long upper lip Pulmonary artery hypoplasia Ectopic posterior pituitary Chronic lung disease Recurrent lower respiratory tract infections Immunodeficiency Recurrent respiratory infections Respiratory failure Polyhydramnios Long face Convex nasal ridge Bruxism Scaphocephaly Ambiguous genitalia Decreased fetal movement Congenital diaphragmatic hernia Hypertrichosis Abnormal lung morphology Pachygyria Recurrent urinary tract infections Narrow face Multicystic kidney dysplasia Prominent nasal tip Abnormality of the skeletal system Dystonia Smooth philtrum Blue sclerae Hypotelorism Clitoral hypertrophy Long philtrum Absent speech Bulbous nose Thin upper lip vermilion Joint hypermobility Muscular hypotonia of the trunk Neurological speech impairment Wide nose Brachycephaly Highly arched eyebrow Wide intermamillary distance Broad forehead Absence seizures Widely spaced teeth Postnatal growth retardation Joint laxity Gastroesophageal reflux Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Prominent scalp veins Mandibular condyle hypoplasia Craniofacial dysostosis Distal arthrogryposis Camptodactyly Arthrogryposis multiplex congenita Pulmonary hypoplasia Esotropia Narrow forehead Elbow flexion contracture Knee flexion contracture Scapular winging Poor head control Akinesia Hip contracture Ankle contracture Flexion contracture Fetal akinesia sequence Internally rotated shoulders Abnormality of metabolism/homeostasis Inguinal hernia Cleft lip Abnormality of the eye Feeding difficulties in infancy Prominent nasal bridge Anal atresia Cleft upper lip Underdeveloped nasal alae Areflexia Strabismus Choanal atresia Thoracic platyspondyly Abnormality of cardiovascular system morphology Pectus carinatum Platyspondyly Delayed eruption of teeth Increased bone mineral density Wormian bones Progressive hearing impairment Prominent supraorbital ridges Increased susceptibility to fractures Generalized osteoporosis Dentinogenesis imperfecta Abnormality of the dentition Delayed eruption of primary teeth Depressivity Alopecia Everted lower lip vermilion Sparse and thin eyebrow Sparse eyelashes Bicuspid aortic valve Sparse eyebrow Preauricular pit Hydroureter Trismus Mandibulofacial dysostosis Renal hypoplasia Renal dysplasia Lambdoidal craniosynostosis Anteverted nares 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 Postauricular skin tag Muscular hypotonia Hypertonia Hypoplastic superior helix Proptosis Craniosynostosis Small hand Plagiocephaly Increased intracranial pressure Optic nerve hypoplasia Flat occiput Arnold-Chiari type I malformation Anterior plagiocephaly Stomatocytosis Dimple chin Question mark ear Anterior open-bite malocclusion Narrow palpebral fissure Apnea Abnormal palate morphology Abnormality of vision 2-3 toe syndactyly Hypomimic face Secundum atrial septal defect Unilateral cleft lip Median cleft palate Bilateral choanal atresia Bilateral choanal atresia/stenosis Posteriorly rotated ears Low-set, posteriorly rotated ears Full cheeks Overfolding of the superior helices Dental malocclusion Atresia of the external auditory canal Facial cleft Ankylosis Obstructive sleep apnea Microglossia Impaired mastication Hamartoma of tongue Snoring Difficulty in tongue movements Speech articulation difficulties Abnormal glycosylation


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