Macrocephaly, and Osteopenia

Diseases related with Macrocephaly and Osteopenia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Other less relevant matches:

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi2b, formerly|osteogenesis imperfecta, type iib, formerly|oi, type vii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

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

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Top 5 symptoms//phenotypes associated to Macrocephaly and Osteopenia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Wormian bones Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Increased susceptibility to fractures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Prominent forehead Generalized hypotonia Blue sclerae Triangular face Recurrent fractures Failure to thrive Frontal bossing Vertebral compression fractures High palate Global developmental delay Proptosis Dentinogenesis imperfecta Intellectual disability Relative macrocephaly Feeding difficulties Hypertelorism Growth delay Hearing impairment Muscular hypotonia Joint laxity High pitched voice Wide anterior fontanel Shallow orbits Pectus excavatum Micromelia Narrow chest Platyspondyly Craniosynostosis

Rare Symptoms - Less than 30% cases

Seizures Inguinal hernia Severe short stature Strabismus Abnormal facial shape Cataract Anteverted nares Brachydactyly Macrotia Hydronephrosis Autistic behavior Wide mouth Hyperpigmentation of the skin Low-set ears Intrauterine growth retardation Skeletal dysplasia Delayed cranial suture closure Joint hyperflexibility Delayed eruption of teeth Microdontia Micrognathia Long philtrum Malar flattening Crumpled long bones Oligohydramnios Coronal craniosynostosis Broad forehead Thin ribs Decreased skull ossification Thin upper lip vermilion Postnatal growth retardation Pes planus Round face Hyperthyroidism Limb undergrowth Rhizomelia Kyphosis Narrow iliac wings Hydrocephalus Ventriculomegaly Downslanted palpebral fissures Motor delay Turricephaly Abnormality of the ribs Abnormal form of the vertebral bodies Bruising susceptibility Abnormality of the voice Increased circulating renin level Impaired platelet aggregation Pseudohypoaldosteronism Abnormality of the metaphysis Bowing of the long bones Metabolic alkalosis Hydrops fetalis Abnormality of dental enamel Hypocalciuria Hyposthenuria Edema Increased urinary potassium Respiratory distress Increased serum prostaglandin E2 Hyperprostaglandinuria Hyperchloriduria Hyperactive renin-angiotensin system Fetal polyuria High forehead Genu valgum Narrow forehead Abnormal lung morphology Nephrolithiasis Coxa valga Hypokalemic metabolic alkalosis Chronic kidney disease Pyloric stenosis Renal potassium wasting Hypochloremia Femoral bowing Generalized joint laxity Broad ribs Chronic lung disease Ureteropelvic junction obstruction Renal juxtaglomerular cell hypertrophy/hyperplasia Hypokalemic alkalosis Low-to-normal blood pressure Hypoplasia of the maxilla Pathologic fracture Hip dislocation High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Microcephaly Talipes equinovarus Hernia Autism Protruding ear Corneal opacity Congenital cataract Delayed closure of the anterior fontanelle Thin skin Spontaneous abortion Aortic regurgitation Cutis laxa Adducted thumb Unilateral renal agenesis Brisk reflexes Reduced subcutaneous adipose tissue Spinal canal stenosis Premature skin wrinkling Calcaneovalgus deformity Dermal translucency Hypoplasia of teeth Capillary hemangioma Central hypotonia Carious teeth Communicating hydrocephalus Severe hydrops fetalis Multiple suture craniosynostosis Orbital craniosynostosis Cleft palate Cryptorchidism Delayed speech and language development Wide nasal bridge Optic atrophy Gastroesophageal reflux Sparse hair Prominent nasal bridge Pulmonic stenosis Premature loss of teeth Smooth philtrum Abnormality of skin pigmentation Thin vermilion border Wide nose Chondrocalcinosis Bifid uvula Prominent nose Esotropia Large fontanelles Hemangioma Coarse hair Prominent supraorbital ridges Brittle hair Tetany Steatorrhea Alkalosis Thick lower lip vermilion Cerebral atrophy Absent speech Encephalopathy EEG abnormality Deeply set eye Telecanthus Abnormality of the cerebral white matter Bulbous nose Thick eyebrow Dyskinesia High, narrow palate Cerebral visual impairment Epicanthus Sparse eyebrow Self-injurious behavior Delayed ability to walk Nasogastric tube feeding Recurrent hand flapping Respiratory insufficiency Coxa vara Delayed gross motor development Bowing of the legs Thoracolumbar scoliosis Breech presentation Dystonia Depressed nasal bridge Wide cranial sutures Joint hypermobility Retrognathia Microretrognathia Reduced bone mineral density Lambdoidal craniosynostosis Fractures of the long bones Abnormality of the dentition Abnormality of metabolism/homeostasis Narrow mouth Mandibular prognathia Abnormality of the eye Hyperlordosis Abnormality of pelvic girdle bone morphology Visual impairment Mixed hearing impairment Dislocated radial head Barrel-shaped chest Biconcave vertebral bodies Vertebral wedging Limited pronation/supination of forearm Thin calvarium Dense metaphyseal bands Anterior radial head dislocation Hyperplastic callus formation Nystagmus Ptosis Bronchiolitis Multiple prenatal fractures Abnormally large globe Generalized muscle weakness Pain Fever Vomiting Diarrhea Arrhythmia Constipation Acidosis Polyhydramnios Small for gestational age Paresthesia Muscle cramps Premature birth Abnormality of the adrenal glands Dehydration Nephrocalcinosis Ventricular arrhythmia Hypokalemia Hypercalciuria Polydipsia Polyuria Hyperkalemia Hyperaldosteronism Hypomagnesemia Renal salt wasting Aplasia/Hypoplasia of the thymus Abnormality of the gastrointestinal tract Protrusio acetabuli Malabsorption Decreased calvarial ossification Absent pulmonary artery Multiple rib fractures Hypoplastic pulmonary veins Externally rotated/abducted legs Short neck Immunodeficiency Osteoporosis Coarse facial features Joint stiffness Camptodactyly of finger Short palm Osteomalacia Subcutaneous nodule Thickened skin Chronic diarrhea Gingival overgrowth Lymphedema Skin ulcer Recurrent bacterial infections Polycystic ovaries Urticaria Abnormality of dental morphology Telangiectasia of the skin Abnormality of the musculature Small foramen magnum


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Tetralogy of Fallot, related diseases and genetic alterations Congestive heart failure and Thrombocytopenia, related diseases and genetic alterations