Macrocephaly, and Abnormality of the metaphysis

Diseases related with Macrocephaly and Abnormality of the metaphysis

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


Top matches:

Low match CRANIODIAPHYSEAL DYSPLASIA


Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

Low 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

Low match HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME


Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome|liebenberg syndrome|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly

Related symptoms:

  • Brachydactyly
  • Macrocephaly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Camptodactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

Low 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

Low match SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA


Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.

Related symptoms:

  • Short stature
  • Hypertelorism
  • Flexion contracture
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA

Low match X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE


X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

Low match CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD


Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj|cmd|craniometaphyseal dysplasia, jackson type

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

Low match OSTEOGENESIS IMPERFECTA TYPE 5


Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

Low match CRANIOMETAPHYSEAL DYSPLASIA


Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Abnormality of the metaphysis

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Metaphyseal widening Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Macrocephaly and Abnormality of the metaphysis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Mandibular prognathia Midface retrusion Abnormality of pelvic girdle bone morphology Hypertelorism Conductive hearing impairment Mixed hearing impairment Relative macrocephaly Wide nasal bridge Rhizomelia Metaphyseal dysplasia Hyperlordosis Flared metaphysis Hyperostosis Brachydactyly

Rare Symptoms - Less than 30% cases


Low-set ears Facial palsy Club-shaped distal femur Increased susceptibility to fractures Asymmetry of the mandible Genu varum Barrel-shaped chest Severe short stature Nasal obstruction Sclerosis of skull base Abnormality of the nasopharynx Cranial nerve compression Bony paranasal bossing Scoliosis Sensorineural hearing impairment Short neck Depressed nasal bridge Hypoplastic ilia Facial hyperostosis Protuberant abdomen Optic atrophy Frontal bossing Short ribs Coarse facial features Micrognathia Malar flattening Short nose Craniofacial hyperostosis Thin ribs Misalignment of teeth Hypoplastic iliac wing Erlenmeyer flask deformity of the femurs Depressed nasal ridge Short foot Short palm Unilateral facial palsy Abnormality of the vertebral column Hypoplasia of the calcaneus Osteomyelitis Severe platyspondyly Abnormality of the calcaneus Distal shortening of limbs Metaphyseal cupping of metacarpals Feeding difficulties Blindness Prominent forehead Metaphyseal chondrodysplasia Decreased skull ossification Delayed eruption of teeth Otitis media Overgrowth Tinnitus 11 pairs of ribs Metaphyseal cupping of proximal phalanges Chronic otitis media Broad forehead Bilateral facial palsy Visual loss Limited pronation/supination of forearm Thin calvarium Dense metaphyseal bands Anterior radial head dislocation Hyperplastic callus formation Abnormal facial shape Visual impairment Respiratory distress Telecanthus Biconcave vertebral bodies Prominent supraorbital ridges Abnormality of the thorax Epiphora Osteopetrosis Abnormal cranial nerve morphology Nasolacrimal duct obstruction Delayed eruption of permanent teeth Broad alveolar ridges Vertebral wedging Dentinogenesis imperfecta Calvarial osteosclerosis Abnormality of the eye Generalized hypotonia Abnormality of the dentition Abnormality of metabolism/homeostasis Pectus excavatum Narrow mouth Osteopenia Pes planus Thin upper lip vermilion Wide mouth Vertebral compression fractures Joint hypermobility Recurrent fractures Triangular face Round face Limb undergrowth Blue sclerae Wormian bones Dislocated radial head Short philtrum Metaphyseal irregularity Hyperkeratosis Camptodactyly Sleep apnea Spinal canal stenosis Abnormality of the elbow Abnormality of femur morphology Childhood onset short-limb short stature Talipes equinovarus Clinodactyly of the 5th finger Joint stiffness Bowing of the long bones Elbow flexion contracture Abnormality of the fingernails Elbow dislocation Aplasia/Hypoplasia of the radius Synostosis of carpal bones Carpal synostosis Abnormality of the ulna Ridged nail Short toe Abnormal form of the vertebral bodies Abnormality of the carpal bones High myopia Abnormality of the ribs Stenosis of the external auditory canal Diaphyseal thickening Diaphyseal sclerosis Diaphyseal dysplasia Myopia Anteverted nares Wide anterior fontanel Osteoarthritis Thoracic hypoplasia Bell-shaped thorax Metaphyseal cupping Hypoplastic ischia Hypoplastic pubic bone Cupped ribs Joint hyperflexibility Micromelia Abnormality of the humerus Joint contracture of the 5th finger Cerebellar hypoplasia Delayed pubic bone ossification Short long bone Disproportionate short stature Disproportionate short-trunk short stature Stiff neck Abnormally ossified vertebrae Pseudoepiphyses Enlarged epiphyses Enchondroma Genu valgum Abnormality of the epididymis Pseudoepiphyses of hand bones Growth delay Intrauterine growth retardation Abnormality of the skeletal system Hydrocephalus Intellectual disability, mild Microphthalmia Coxa vara Flexion contracture Abnormality of the distal phalanx of finger Hoarse voice 2-3 finger syndactyly Long metacarpals Radially deviated wrists Posteriorly rotated ears Joint laxity Low-set, posteriorly rotated ears Lumbar hyperlordosis Broad thumb Abnormality of the nail Absent nasal cartilage Mesomelia Short finger Proportionate short stature Spondyloepimetaphyseal dysplasia Irregular epiphyses Vertebral clefting Functional respiratory abnormality Absent nasal bridge Patchy sclerosis of finger phalanx



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Short neck, related diseases and genetic alterations Dysarthria and Thick eyebrow, related diseases and genetic alterations Tremor and Dysarthria, related diseases and genetic alterations Hydrocephalus and Type II diabetes mellitus, related diseases and genetic alterations Low-set ears and Coarctation of aorta, related diseases and genetic alterations Immunodeficiency and Apraxia, related diseases and genetic alterations Growth delay and Rheumatoid arthritis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more