Macrocephaly, and Midface retrusion

Diseases related with Macrocephaly and Midface retrusion

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


Top matches:

High match ISOLATED PLAGIOCEPHALY


Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

High match FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE


Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

High match FIBROCHONDROGENESIS 2; FBCG2


Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Myopia
  • Macrocephaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about FIBROCHONDROGENESIS 2; FBCG2

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Other less relevant matches:

High match COLE-CARPENTER SYNDROME 2; CLCRP2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

High match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME


A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

High 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

High match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

High match OPTIC ATROPHY 11; OPA11


OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE


Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Related symptoms:

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

High match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Top 5 symptoms//phenotypes associated to Macrocephaly and Midface retrusion

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Macrocephaly and Midface retrusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Platyspondyly Mandibular prognathia Short nose High palate

Rare Symptoms - Less than 30% cases


Depressed nasal bridge Hypoplastic ilia Hydrocephalus Hypermetropia Thoracic hypoplasia Metaphyseal widening Short ribs Long philtrum Microcephaly Macrotia Broad forehead Abnormal facial shape Abnormality of the skeletal system Syndactyly Relative macrocephaly Oral cleft Short finger Generalized hypotonia Low-set ears Malar flattening Brachydactyly Anteverted nares Scaphocephaly Dolichocephaly Craniosynostosis Proptosis Trigonocephaly Ventriculomegaly Upslanted palpebral fissure Myopia Facial asymmetry Strabismus Respiratory failure Small posterior fossa Amblyopia Brain atrophy Dysmetria Abnormality of digit Hyperactivity Cerebellar hypoplasia Absent speech Optic atrophy Visual impairment Facial cleft Ataxia Horizontal ribs Cleft lip Lateral clavicle hook Thoracic dysplasia Prominent occiput Prominent forehead Single median maxillary incisor Polydactyly Cyclopia Hypoplasia of the radius Postaxial polydactyly Pulmonary hypoplasia Proboscis Micromelia Narrow chest Absent thumb Hyperkinesis Leukoencephalopathy Intellectual disability, severe Deep philtrum Functional respiratory abnormality Absent nasal bridge Absent nasal cartilage Cleft palate Ptosis Holoprosencephaly Irregular epiphyses Microphthalmia Coloboma Exotropia Hypotelorism Narrow forehead Synophrys Astigmatism Vertebral clefting Spondyloepimetaphyseal dysplasia Microcornea Low-set, posteriorly rotated ears Abnormality of mitochondrial metabolism Facial diplegia Abnormality of the basal ganglia Short neck Severe short stature Posteriorly rotated ears Joint laxity Hyperlordosis Barrel-shaped chest Lumbar hyperlordosis Broad thumb Rhizomelia Hoarse voice Abnormality of the nail Mesomelia Respiratory distress Proportionate short stature Gait disturbance Respiratory insufficiency Osteopenia Hypoplastic pubic bone Cupped ribs Motor delay Downslanted palpebral fissures Kyphosis Pectus excavatum Retrognathia Metaphyseal cupping Postnatal growth retardation Recurrent fractures Triangular face Oligohydramnios Blue sclerae Wormian bones Microretrognathia Hypoplastic ischia Bell-shaped thorax High pitched voice Hypoplasia of the maxilla Abnormality of eye movement Plagiocephaly Visual field defect Intellectual disability, mild High forehead Toe syndactyly Open bite Protuberant abdomen Shallow orbits Broad hallux phalanx Craniofacial dysostosis Micrognathia Skeletal dysplasia High myopia Wide anterior fontanel Reduced bone mineral density Thin ribs Ventricular septal defect Dental malocclusion Biparietal narrowing Severe combined immunodeficiency Increased head circumference Postnatal macrocephaly Gait ataxia Facial palsy Nail dysplasia Lymphopenia Overgrowth Small nail Tetraparesis Increased intracranial pressure Hyperostosis Cutaneous finger syndactyly Sclerotic vertebral endplates Combined immunodeficiency Pancytopenia Turricephaly Immunodeficiency Coronal craniosynostosis Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Neoplasm Fever Recurrent infections Decreased antibody level in blood Obesity Pneumonia Autism Hepatosplenomegaly Autistic behavior Attention deficit hyperactivity disorder Lymphadenopathy Exencephaly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Wide nose, related diseases and genetic alterations Fever and Synophrys, related diseases and genetic alterations

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