Micrognathia, and Overgrowth

Diseases related with Micrognathia and Overgrowth

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

Top matches:

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Other less relevant matches:

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

High match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

FRONTOMETAPHYSEAL DYSPLASIA Is also known as fmd

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Micrognathia and Overgrowth

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Wide nasal bridge Intellectual disability Cryptorchidism Anteverted nares Cleft palate Generalized hypotonia Microcephaly Long philtrum Low-set ears Depressed nasal bridge Abnormality of the skeletal system Severe short stature Sensorineural hearing impairment Seizures Scoliosis Dental malocclusion Muscular hypotonia Ptosis Hydronephrosis Umbilical hernia Thin upper lip vermilion Joint stiffness Macrocephaly Inguinal hernia Hernia Proptosis Specific learning disability Flexion contracture Prominent forehead Clinodactyly Arachnodactyly Epicanthus Bowing of the long bones

Rare Symptoms - Less than 30% cases

Narrow chest Respiratory distress Short long bone Status epilepticus Short nose Attention deficit hyperactivity disorder Brachydactyly Volvulus Posteriorly rotated ears Skeletal dysplasia Frontal bossing Polyhydramnios Edema Coarse facial features Abnormality of cardiovascular system morphology High forehead Disproportionate short-limb short stature Conductive hearing impairment Narrow naris Abnormality of the metaphysis Pectus excavatum Dilatation High palate Joint hypermobility Atrial septal defect Congenital diaphragmatic hernia Intellectual disability, mild Long foot Pointed chin Increased bone mineral density Skeletal muscle atrophy Malar flattening Tall stature Cranial hyperostosis Narrow mouth Abnormality of the pinna Hydroureter Neoplasm Cataract Knee flexion contracture Microcornea Delayed eruption of teeth Delayed speech and language development Thin vermilion border Failure to thrive Deeply set eye Brachycephaly Microphthalmia Prominent supraorbital ridges Myopia Abnormality of the dentition Retrognathia Abdominal distention Abnormality of dental enamel Sparse eyelashes Spasticity Round face Wide nose Dental crowding Hyperostosis Blindness Flat face Abnormality of dental morphology Abnormal eyelash morphology Underdeveloped supraorbital ridges Cellulitis Abnormal nasolacrimal system morphology Chorioretinal atrophy Chorioretinal dysplasia Melanonychia Nystagmus Erysipelas Panniculitis Myopic astigmatism Abnormal toenail morphology Hepatomegaly Gangrene Vitreoretinopathy Hypospadias Retinal dysplasia Leukonychia Chylothorax Retinal fold Retinal thinning Chorioretinal lacunae Renal insufficiency Prominent nasal tip Exudative vitreoretinopathy Cerebral atrophy Congenital microcephaly Intellectual disability, severe Cortical gyral simplification Protruding ear Retinal detachment Thick vermilion border Retinal dystrophy Dry skin Astigmatism Hypermetropia Corneal opacity Leukemia Retinopathy Aggressive behavior Broad nasal tip Neonatal hypotonia Rigidity Macrotia Mandibular prognathia Hypoplasia of the corpus callosum Reduced visual acuity Glaucoma Hyperactivity Upslanted palpebral fissure Visual loss Sleep disturbance Full cheeks Agitation Skin ulcer Optic atrophy Flat occiput Anophthalmia Scaling skin Patent foramen ovale Bilateral ptosis Deep philtrum Optic nerve hypoplasia Venous thrombosis Muscle stiffness Lymphedema Lymphoma Abnormality of retinal pigmentation Amblyopia Thickened skin Subcutaneous nodule Thick lower lip vermilion Hypertonia Bilateral sensorineural hearing impairment Hepatosplenomegaly Sloping forehead Pigmentary retinopathy Agenesis of corpus callosum Interrupted aortic arch Muscular hypotonia of the trunk Stridor Esophageal atresia Synostosis of carpal bones Wheezing Ulnar deviation of finger Metaphyseal dysplasia Severe hearing impairment Atrioventricular canal defect Long fingers Decreased muscle mass Tracheoesophageal fistula Elbow dislocation Tracheal stenosis Reduced number of teeth Abnormality of the genitourinary system Scapular winging Accelerated skeletal maturation Short chin Coxa valga Elbow flexion contracture Abnormal form of the vertebral bodies Mitral valve prolapse Hirsutism Ankle contracture Cor pulmonale Camptodactyly of finger Absent/hypoplastic paranasal sinuses Coat hanger sign of ribs Partial fusion of tarsals Increased density of long bone diaphyses Partial fusion of carpals Anteriorly placed odontoid process Irregular metacarpals Posterior vertebral hypoplasia Antegonial notching of mandible Broad phalanges of the hand Long metacarpals Short distal phalanx of hallux Fused cervical vertebrae Large foramen magnum Short distal phalanx of the thumb Ureteral stenosis Subglottic stenosis Urethral stenosis Wrist flexion contracture Persistence of primary teeth Abnormal diaphysis morphology Selective tooth agenesis Hypoplasia of the musculature Craniofacial hyperostosis Genu valgum Craniosynostosis Abnormality of the kidney Renal dysplasia Neurodevelopmental delay Global brain atrophy Large for gestational age Nephroblastoma Hyperinsulinemia Polycystic kidney dysplasia Growth abnormality Tented upper lip vermilion Bilateral single transverse palmar creases Hepatic fibrosis Open mouth Enlarged kidney Lumbar hyperlordosis Cardiomegaly Hypoplasia of penis Abnormality of the cardiovascular system Macroglossia Ascites High, narrow palate Smooth philtrum Dolichocephaly Hyperlordosis Hamartoma Capillary hemangioma Prominent xiphoid process Abnormality of upper lip Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Abnormality of pancreas morphology Nephroblastomatosis Thymus hyperplasia Fetal ascites Lumbar scoliosis Polysplenia Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Hypoperistalsis Visceromegaly Thickened helices Hypoxemia Thick upper lip vermilion Renal neoplasm Megaduodenum Dysphagia Gastrointestinal obstruction Narrow nasal tip Spina bifida Bradycardia Oligohydramnios Convex nasal ridge Recurrent fractures Bulbous nose Scarring Joint laxity Otitis media with effusion Mesomelic short stature Narrow palpebral fissure Triangular mouth Generalized osteosclerosis Depressed nasal tip Thickened calvaria Mesomelia Chronic otitis media Oligodontia Gingival overgrowth Short phalanx of finger Joint dislocation Cutis laxa Limb undergrowth Prominence of the premaxilla Short ribs Choanal atresia Waddling gait Osteopenia Kyphoscoliosis Clinodactyly of the 5th finger Pulmonary artery dilatation Generalized arterial tortuosity Pulmonary artery aneurysm Multiple joint dislocation Aortic aneurysm Intussusception Arterial tortuosity Biventricular hypertrophy Pulmonary insufficiency Arterial stenosis Abnormality of the vasculature Soft skin Aortic root aneurysm Emphysema Broad thumb Otitis media Osteolysis Neonatal short-limb short stature Triangular face Hypoplasia of the maxilla Short foot Small hand Toe syndactyly Telecanthus Delayed skeletal maturation Syndactyly Anisospondyly Abnormality of the abdominal wall Short palpebral fissure Calvarial skull defect Thoracic hypoplasia Abnormality of pelvic girdle bone morphology Depressed nasal ridge Blue sclerae Pulmonary hypoplasia Micromelia Respiratory insufficiency Talipes equinovarus Underdeveloped nasal alae Fine hair Short distal phalanx of finger Persistent pupillary membrane Wide mouth Camptodactyly Cleft lip Micropenis Midface retrusion 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Broad long bones Sparse scalp hair Cutaneous syndactyly of toes Hypoplasia of teeth Large earlobe Mild global developmental delay Spinal cord compression Narrow nose Basal ganglia calcification Long nose Large fontanelles Nephrocalcinosis Elevated alkaline phosphatase Neuroma Low-set, posteriorly rotated ears Recurrent urinary tract infections Aganglionic megacolon Interphalangeal joint contracture of finger Intestinal malrotation Vesicoureteral reflux Ophthalmoplegia Broad forehead Prominent nasal bridge Abnormality of the liver Weight loss Pancreatitis Abdominal pain Pneumonia Constipation Diarrhea Vomiting Myopathy Fever Peripheral neuropathy Hypertension Horseshoe kidney External ophthalmoplegia Inguinal freckling Aplasia/Hypoplasia of the abdominal wall musculature Barrett esophagus Urethral obstruction Megacystis Prune belly Microcolon Pollakisuria Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Peritonitis Hypoalbuminemia Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Anonychia Malnutrition Intestinal obstruction Portal hypertension Pain Spinal neurofibromas Hypercalciuria Clubbing of fingers Strabismus Prominent supraorbital arches in adult Thick skull base Metaphyseal dysostosis Wide cranial sutures Metaphyseal cupping Metaphyseal chondrodysplasia Enlarged joints Hyperphosphaturia Misalignment of teeth Abnormal heart morphology Choanal stenosis Upper limb undergrowth Hypoparathyroidism Hip contracture Pathologic fracture Hypophosphatemia Bowing of the legs Rickets Hypercalcemia Cognitive impairment Pes cavus Focal T2 hyperintense basal ganglia lesion Bifid nose Plexiform neurofibroma Deviated nasal septum Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Axillary freckling Lisch nodules Overbite Thick nasal alae Bone cyst Facial asymmetry Macroorchidism Broad neck Alopecia of scalp Neurofibromas Large hands Sparse and thin eyebrow Cafe-au-lait spot Hypoplasia of dental enamel Joint hyperflexibility Long phalanx of finger


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