Abnormal facial shape, and Abnormality of the metaphysis

Diseases related with Abnormal facial shape and Abnormality of the metaphysis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape 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 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE


Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE Is also known as semd, matrilin-3 type|semd, matn3-related

Related symptoms:

  • Short stature
  • Pectus excavatum
  • Severe short stature
  • Hyperlordosis
  • Platyspondyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

Low match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

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Other less relevant matches:

Low match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

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 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


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

Low match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

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

Low match SECKEL SYNDROME 10; SCKL10


Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Low match ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of the metaphysis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Severe short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of the metaphysis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum Blue sclerae Metaphyseal widening Limb undergrowth Micrognathia Flat face Hyperlordosis Hearing impairment Depressed nasal bridge Flared metaphysis Mandibular prognathia Coarse facial features Wide nasal bridge

Rare Symptoms - Less than 30% cases


Abnormality of pelvic girdle bone morphology Generalized hypotonia Cleft palate Talipes equinovarus Malar flattening Kyphoscoliosis Osteopenia Decreased body weight Sensorineural hearing impairment Narrow mouth Relative macrocephaly Microcephaly Pes planus Round face Posteriorly rotated ears Small hand Rhizomelia Barrel-shaped chest Mixed hearing impairment Midface retrusion Global developmental delay Micromelia Limited elbow extension Lumbar hyperlordosis Craniofacial hyperostosis Myopia Short long bone Disproportionate short-limb short stature Facial hyperostosis Hyperostosis Thoracic hypoplasia Optic atrophy Conductive hearing impairment Nasal obstruction Short phalanx of finger Abnormality of the thorax Metaphyseal irregularity Epiphora Short metatarsal Limitation of joint mobility Metaphyseal dysplasia Abnormal cranial nerve morphology Short metacarpal Broad alveolar ridges Osteopetrosis Delayed eruption of permanent teeth Nasolacrimal duct obstruction Arthralgia of the hip Prominent supraorbital ridges Hypoplasia of the odontoid process Disproportionate short-trunk short stature Atlantoaxial instability Broad phalanx Flattened epiphysis Thoracolumbar kyphosis Broad femoral neck Myelopathy Small forehead Flattened femoral head Broad metatarsal Hypertelorism Hypoplastic pelvis Visual impairment Respiratory distress Visual loss Skeletal dysplasia Telecanthus Facial palsy Sclerosis of skull base Acanthosis nigricans Abnormality of the nasopharynx Thin vermilion border Elevated serum alanine aminotransferase Strabismus Muscular hypotonia Downslanted palpebral fissures Anteverted nares Intellectual disability, severe Renal insufficiency Patent ductus arteriosus Proteinuria Stage 5 chronic kidney disease Thick vermilion border Abdominal aortic aneurysm Hematuria Tapered finger Abnormality of the hair Nephritis Glomerulopathy Increased number of teeth Microscopic hematuria Abnormal aortic valve morphology Elliptocytosis Craniopharyngioma Elevated serum aspartate aminotransferase Acute pancreatitis Cranial nerve compression Ventricular hypertrophy Asymmetry of the mandible Bony paranasal bossing Club-shaped distal femur Patchy sclerosis of finger phalanx Hypertension Congestive heart failure Dilatation Diabetes mellitus Hepatic steatosis Retinal detachment Hypertriglyceridemia Elevated circulating luteinizing hormone level Microretrognathia Pectus carinatum Aortic aneurysm Cone-shaped epiphysis Glucose intolerance Glycosuria Slender long bone Insulin-resistant diabetes mellitus Skin tags Elevated circulating follicle stimulating hormone level Genu valgum Hyperplastic callus formation Joint laxity Growth delay Cutis laxa Hyperextensible skin Epiphyseal dysplasia Carpal synostosis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Seizures Spasticity Sparse hair Intrauterine growth retardation Cardiomyopathy Absent speech Pneumonia Cerebellar hypoplasia Agenesis of corpus callosum Craniosynostosis Short foot Prominent nose Hip dislocation Proptosis Mild short stature Flat acetabular roof Frontal bossing Abnormality of the ribs Stenosis of the external auditory canal Diaphyseal thickening Diaphyseal sclerosis Diaphyseal dysplasia Waddling gait Bowing of the legs Ovoid vertebral bodies Prominent forehead Spondyloepimetaphyseal dysplasia Enlarged joints Small epiphyses Irregular epiphyses Narrow iliac wings Hypoplastic pubic bone Posterior rib cupping Metaphyseal spurs Dysplastic iliac wings Sloping forehead Cortical gyral simplification Arthralgia Depressed nasal ridge Respiratory insufficiency Atrial septal defect Inguinal hernia Umbilical hernia Joint stiffness Narrow chest Pulmonary hypoplasia Overgrowth Bowing of the long bones Anterior radial head dislocation Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Anisospondyly Pain Brachydactyly Abnormality of the skeletal system Short neck Kyphosis Cryptorchidism Dense metaphyseal bands Partial agenesis of the corpus callosum Joint hypermobility Restrictive cardiomyopathy Metaphyseal sclerosis Scoliosis Abnormality of the dentition Abnormality of metabolism/homeostasis Thin upper lip vermilion Abnormality of the eye Broad forehead Recurrent fractures Thin calvarium Triangular face Wormian bones Increased susceptibility to fractures Dislocated radial head Vertebral compression fractures Dentinogenesis imperfecta Biconcave vertebral bodies Vertebral wedging Limited pronation/supination of forearm Erythrocyte cylindruria



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