Macrocephaly, and Osteoporosis

Diseases related with Macrocephaly and Osteoporosis

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

Top matches:

Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).

OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 Is also known as oi, type ix

Related symptoms:

  • Scoliosis
  • Growth delay
  • Macrocephaly
  • Kyphosis
  • Pectus excavatum


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE IX; OI9

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta|osteogenesis imperfecta, progressively deforming, with normal sclerae|progressive deforming osteogenesis imperfecta|oi type 3|oi, type iii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 3

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Other less relevant matches:

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

JUVENILE PAGET DISEASE Is also known as familial osteoectasia|hyperphosphatasia, familial idiopathic|juvenile paget disease|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|juvenile paget's disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PAGET DISEASE

Medium match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Medium match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Medium match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Top 5 symptoms//phenotypes associated to Macrocephaly and Osteoporosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Recurrent fractures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Increased susceptibility to fractures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Kyphoscoliosis Brachydactyly Midface retrusion Skeletal dysplasia Abnormality of the dentition Wormian bones Global developmental delay Muscle weakness Brachycephaly Intellectual disability Growth delay Severe short stature Muscular hypotonia Malar flattening Joint laxity Abnormality of epiphysis morphology Micrognathia Abnormal facial shape Generalized hypotonia Abnormality of the skeletal system Blue sclerae Low-set ears Hearing impairment

Rare Symptoms - Less than 30% cases

Epiphyseal dysplasia Hypertelorism Ptosis Broad nasal tip Elevated hepatic transaminase Retrognathia Proptosis Posteriorly rotated ears Atrial septal defect Increased bone mineral density Genu valgum Elevated serum creatine phosphokinase Hepatomegaly Sleep apnea Abnormality of pelvic girdle bone morphology Growth hormone deficiency Delayed eruption of teeth Carious teeth Narrow chest Hepatosplenomegaly Generalized osteoporosis Abnormality of the clavicle Cleft palate Depressed nasal bridge Pes planus Long philtrum Downslanted palpebral fissures High palate Cognitive impairment Abnormal sacrum morphology Seizures Pain Failure to thrive Wide anterior fontanel Coarse facial features Abnormality of the thorax Bowing of limbs due to multiple fractures Short neck Micromelia Multiple prenatal fractures Dentinogenesis imperfecta Feeding difficulties Gingival overgrowth Subcutaneous nodule Rhizomelia Pectus carinatum Joint hypermobility Abnormality of dental morphology Sinusitis Coxa vara Abnormality of dental enamel Hemivertebrae Hypoplasia of the zygomatic bone Abnormality of the metacarpal bones Large fontanelles Abnormality of the ribs Large joint dislocations Sloping forehead Tapered finger Narrow vertebral interpedicular distance High, narrow palate Spina bifida occulta Increased number of teeth Chronic otitis media Open bite Down-sloping shoulders Short clavicles Abnormality of the patella Broad forehead Sprengel anomaly Glossoptosis Decreased skull ossification Slender metacarpals Posterior scalloping of vertebral bodies Hearing abnormality Hypoplastic scapulae Narrow femoral neck Persistent open anterior fontanelle Mandibular prognathia Low back pain Osteolysis Long proximal phalanx of finger Back pain Osteomyelitis Prominent occiput Agenesis of permanent teeth Abnormality of the vertebral column Osteopetrosis Long distal phalanx of finger Slender distal phalanx of finger Osteolytic defects of the phalanges of the hand Spondylolisthesis Ridged nail Small face Caudal interpedicular narrowing Recurrent respiratory infections Osteolytic defects of the distal phalanges of the hand Clinodactyly of the 5th finger Delayed patellar ossification Streaky metaphyseal sclerosis Abnormal pelvis bone ossification Dystrophic toenail Abnormal calcification of the carpal bones Spondylolysis Abnormal pattern of respiration Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Slender proximal phalanx of finger Persistence of primary teeth Laryngotracheomalacia Generalized joint laxity Dystrophic fingernails Nail dysplasia Genu varum Flat capital femoral epiphysis Short long bone Joint dislocation Congenital hip dislocation Osteoarthritis Wide nose Stridor Spinal dysraphism Talipes Joint hyperflexibility Platyspondyly Hip dislocation Short nose Thoracolumbar kyphosis Metaphyseal irregularity Anteverted nares Spondyloepimetaphyseal dysplasia Thoracolumbar scoliosis Soft skin Irregular vertebral endplates Tracheomalacia Thoracic scoliosis Upper airway obstruction Small epiphyses Enlarged thorax Irregular epiphyses Hypoplasia of the capital femoral epiphysis Carpal bone hypoplasia Dislocated radial head Abnormal joint morphology Broad distal phalanx of finger Flared metaphysis Intellectual disability, mild Talipes equinovarus Abnormality of the thumb Cervical segmentation defect Abnormality of the cerebral white matter Thrombocytopenia Fever Strabismus Microcephaly Neck muscle hypoplasia Short face Depressed nasal ridge Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Delayed epiphyseal ossification Dimple chin Waddling gait Postnatal microcephaly Unexplained fevers Premature skin wrinkling Diaphyseal dysplasia Inspiratory stridor Narrow palate Anterior pituitary hypoplasia Toenail dysplasia Beaking of vertebral bodies Broad neck Hoarse voice Amelogenesis imperfecta Protruding tongue Metaphyseal dysplasia Laryngeal stenosis Sacral dimple Shock Abnormal bone ossification Abnormality of the fingernails Eclabion Abnormality of the nail Autistic behavior Cafe-au-lait spot Febrile seizures Nevus Highly arched eyebrow Long face Poor speech Feeding difficulties in infancy Hyperlipidemia Low-set, posteriorly rotated ears Hypoglycemia Cerebral atrophy Behavioral abnormality Ventriculomegaly Epicanthus Accelerated skeletal maturation Reduced bone mineral density Aplasia/Hypoplasia of the thymus Arthralgia Mutism Abnormality of retinal pigmentation Bowing of the long bones Retinal degeneration Retinopathy Scarring Respiratory failure Hyperinsulinemia Pneumonia Optic atrophy Hypertension Motor delay Sensorineural hearing impairment Deep palmar crease Nevus flammeus Delayed speech and language development Abnormality of the adrenal glands Melanocytic nevus Slender long bone Decreased calvarial ossification Basilar impression Protrusio acetabuli Neonatal short-limb short stature Biconcave vertebral bodies Platybasia Tibial bowing Immunodeficiency Pulmonary arterial hypertension Triangular face Abnormality of the nervous system Femoral bowing Disproportionate short-limb short stature Pectus excavatum Severe generalized osteoporosis Osteopenia Abnormality of the gastrointestinal tract Recurrent bacterial infections Osteomalacia Abnormality of the musculature Telangiectasia of the skin Steatorrhea Urticaria Polycystic ovaries Skin ulcer Joint stiffness Hyperpigmentation of the skin Lymphedema Chronic diarrhea Thickened skin Short palm Malabsorption Camptodactyly of finger Elevated alkaline phosphatase Hyperostosis Short toe Abnormality of the sternum Upper eyelid edema Abnormal lip morphology Irregular dentition Urethral stenosis Abnormality of the vasculature Palpebral edema Prolonged bleeding time Anemia High pitched voice Premature ovarian insufficiency Aortic aneurysm Redundant skin Hyperextensible skin Cutis laxa Infra-orbital fold Hydrocephalus Sparse and thin eyebrow Hypoplasia of the maxilla Bone pain Abnormal vertebral morphology Abnormality of the face Small nail Abnormality of the skin Prominent nose Hypodontia Splenomegaly Postural instability Short distal phalanx of finger Craniosynostosis Hyperlordosis Apnea High forehead Prominent forehead Hypergonadotropic hypogonadism Bronchiectasis Thickened calvaria Cranial hyperostosis Hydroxyprolinuria Elevated serum acid phosphatase Macular scar Angioid streaks of the fundus Limb pain Rough bone trabeculation Lower limb pain Cryptorchidism Vertebral compression fractures Hyperphosphatemia Barrel-shaped chest Ankylosis Premature loss of teeth Severe sensorineural hearing impairment Hyperuricemia Hydroxyprolinemia Dilatation Decreased body weight Everted lower lip vermilion Sparse scalp hair Thick lower lip vermilion High myopia Narrow forehead Overgrowth Single transverse palmar crease Thick vermilion border Hernia Hirsutism Bruising susceptibility Ichthyosis Sparse hair Umbilical hernia Hypogonadism Alopecia Delayed phalangeal epiphyseal ossification


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