Micrognathia, and Craniosynostosis

Diseases related with Micrognathia and Craniosynostosis

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

Top matches:

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of CraniosynostosisCraniosynostosis-2 (CRS2 ) is caused by mutation in the MSX2 gene (OMIM ) on chromosome 5q. Craniosynostosis-3 (CRS3 ) is caused by mutation in the TCF12 gene (OMIM ) on chromosome 15q21. Craniosynostosis-4 (CRS4 ) is caused by mutation in the ERF gene (OMIM ) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5 ) is conferred by variation in the ALX4 gene (OMIM ) on chromosome 7p21. Craniosynostosis-6 (CRS6 ) is caused by mutation in the ZIC1 gene (OMIM ) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7 ) is conferred by variation in the SMAD6 gene (OMIM ) on chromosome 15q22.

CRANIOSYNOSTOSIS 1; CRS1 Is also known as crs|craniostenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Blindness
  • Clinodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 1; CRS1

Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE Is also known as spondylometaphyseal dysplasia, japanese type

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE

Low match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Top 5 symptoms//phenotypes associated to Micrognathia and Craniosynostosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Frontal bossing Microcephaly Hypertelorism High palate Scaphocephaly Coronal craniosynostosis Wide nasal bridge Delayed speech and language development Proptosis Growth delay Abnormal facial shape

Rare Symptoms - Less than 30% cases

Clinodactyly Macrocephaly Mild short stature Cognitive impairment Ventriculomegaly Midface retrusion Retrognathia Platyspondyly Microretrognathia Intrauterine growth retardation Prominent forehead Short foot Brachydactyly Sloping forehead Turricephaly Clinodactyly of the 5th finger Cleft palate Low-set ears Agenesis of corpus callosum Narrow mouth Cerebellar hypoplasia Pneumonia Enlargement of the proximal femoral epiphysis Unilateral renal agenesis Broad middle phalanx of finger Metaphyseal cupping of metacarpals Irregular acetabular roof Abnormality of bone mineral density Distal tibial bowing Moderately short stature Scoliosis Diaphyseal thickening Metaphyseal cupping of proximal phalanges Proximal femoral metaphyseal abnormality Chromosome breakage Metaphyseal cupping Abnormality of the metaphysis Abnormal cortical bone morphology Bird-like facies Hypoplasia of the frontal lobes Small cerebral cortex Increased rate of premature chromosome condensation Dilatation Short distal phalanx of finger Waddling gait Limb undergrowth Bowing of the long bones Spondylometaphyseal dysplasia Abnormality of epiphysis morphology Coxa vara Genu varum Delayed skeletal maturation Mild microcephaly Short middle phalanx of finger Bowing of the legs Femoral bowing Irregular vertebral endplates Metaphyseal chondrodysplasia Hypercalcemia Cachexia Glaucoma Bilateral talipes equinovarus Hirsutism Underdeveloped nasal alae Choanal atresia Wide anterior fontanel Generalized hirsutism Cutaneous syndactyly Overfolded helix Cupped ear Long fingers Talipes Prominent metopic ridge Short clavicles Broad neck Short columella Asplenia Widow's peak Velopharyngeal insufficiency Median cleft palate Anal atresia Narrow chest Joint hyperflexibility Cone-shaped epiphysis Hip dysplasia Convex nasal ridge Sparse scalp hair Narrow face Abnormality of dental enamel Sandal gap Reduced number of teeth Pachygyria Prematurely aged appearance Short philtrum Mild global developmental delay Abnormality of earlobe Absent earlobe Cryptorchidism Talipes equinovarus Syndactyly Brachycephaly Gastroesophageal reflux Microtia Hypergonadotropic hypogonadism Ectodermal dysplasia Heterotopia Reduced bone mineral density Osteopenia Postnatal growth retardation Recurrent fractures Triangular face Oligohydramnios Blue sclerae Wormian bones High pitched voice Kyphosis Thin ribs Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Spasticity Cardiomyopathy Absent speech Pectus excavatum Hydrocephalus Small hand Anterior plagiocephaly Blindness Telecanthus Dolichocephaly Rickets Hyperostosis Hyperthyroidism Oxycephaly Short nose Motor delay High forehead Genu valgum Flat face Short metacarpal Short toe Joint dislocation Carpal synostosis Patellar dislocation Severe short stature Round face Spastic tetraplegia Posterior fossa cyst Cerebellar vermis hypoplasia Sparse eyelashes Trigonocephaly Sparse eyebrow Nephritis Hypoplastic toenails Tubulointerstitial nephritis Ptosis Hematuria Hyperreflexia Intellectual disability, severe Hypogonadism Upslanted palpebral fissure Thin upper lip vermilion Intellectual disability, moderate Tetraplegia Vesicoureteral reflux Dandy-Walker malformation Sparse hair Prominent nose Aggressive behavior Cortical gyral simplification Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Generalized hypotonia Mandibular prognathia Hepatosplenomegaly Anxiety Broad nasal tip Abnormality of the kidney Stereotypy Recurrent pneumonia Finger clinodactyly Depressed nasal bridge Epicanthus Ventricular septal defect Abnormality of the dentition Proteinuria Upper eyelid coloboma


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