Micrognathia, and Cleft palate

Diseases related with Micrognathia and Cleft palate

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

Top matches:

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.

ISOLATED PIERRE ROBIN SYNDROME Is also known as isolated pierre robin sequence

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Neonatal respiratory distress
  • Glossoptosis
  • Upper airway obstruction


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PIERRE ROBIN SYNDROME

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see {119530}).Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see {119570}.

CLEFT PALATE, ISOLATED; CPI Is also known as cp|cleft palate

Related symptoms:

  • Seizures
  • Micrognathia
  • Cleft palate
  • Cleft lip
  • Oral cleft


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEFT PALATE, ISOLATED; CPI

Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011).Acrocallosal syndrome (ACLS ) is an allelic disorder with a less severe phenotype.For a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Ventriculomegaly
  • Hydrocephalus
  • Agenesis of corpus callosum


SOURCES: OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 2; HLS2

Other less relevant matches:

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

TREACHER COLLINS SYNDROME 3; TCS3 Is also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: MESH OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 3; TCS3

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 2; TCS2

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Top 5 symptoms//phenotypes associated to Micrognathia and Cleft palate

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Atresia of the external auditory canal Uncommon - Between 30% and 50% cases
Microtia Uncommon - Between 30% and 50% cases
Conductive hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Cleft palate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Scoliosis Midface retrusion Microcephaly Bilateral conductive hearing impairment Coloboma Cleft soft palate Glossoptosis High palate Abnormality of the eye Breech presentation Short neck Pierre-Robin sequence Intrauterine growth retardation Low-set ears Hypertelorism Growth delay Progressive distal muscle weakness Fetal akinesia sequence Proptosis Akinesia Vitreoretinopathy Pectus carinatum Narrow chest Arthrogryposis multiplex congenita Premature osteoarthritis Distal muscle weakness Myopathy Edema Abnormality of the pinna Arthralgia High myopia Pectus excavatum Anteverted nares Myopia Sensorineural hearing impairment Abnormal cortical gyration Rocker bottom foot Retinal detachment Osteoarthritis Platyspondyly Epiphyseal dysplasia Respiratory insufficiency Abnormal joint morphology Arthropathy Exostoses Depressed nasal ridge Decreased fetal movement Sloping forehead Ichthyosis Sparse eyelashes Ventricular septal defect Facial cleft Preaxial polydactyly Postaxial polydactyly Polydactyly Agenesis of corpus callosum Hydrocephalus Ventriculomegaly Anterior open-bite malocclusion Overbite Non-midline cleft lip Anencephaly Gingival overgrowth Intellectual disability, profound Oral cleft Cleft lip Seizures Abnormality of the pharynx Upper airway obstruction Neonatal respiratory distress Molar tooth sign on MRI Mandibulofacial dysostosis Motor delay Arachnodactyly Flexion contracture Muscle weakness Unilateral cryptorchidism Macrocytic anemia Anemia Cryptorchidism Cupped ear Bulbous nose Narrow mouth Lower eyelid coloboma Atrial septal defect Wide nasal bridge Short stature Global developmental delay Intellectual disability Choanal stenosis Choanal atresia Facial asymmetry Enlarged epiphyses


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