Mucopolysaccharidosis
The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov]
Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com]
Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net]
Obstructive Hydrocephalus
Progressive macrocephaly prompted an MRI confirming triventricular hydrocephalus secondary to aqueductal stenosis.[ncbi.nlm.nih.gov]
Serial enlargement of the lateral ventricles 1.5 mm/week and fetal macrocephaly were documented.[ncbi.nlm.nih.gov]
Before the bony sutures of the skull have fused in a child, hydrocephalus may present as progressive and abnormal enlargement of the head (macrocephaly).[casemed.case.edu]
Mucopolysaccharidosis 2
Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]
Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net]
Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal[symptoma.com]
CINCA Syndrome
Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[cags.org.ae]
Other findings that have been reported include macrocephaly (95%), large fontanelle, prominent forehead, flattening of the nasal bridge (saddleback nose), short and thick[en.wikipedia.org]
Congenital Cortical Hyperostoses
Leri-Weill dyschondrosteosis Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density Leukoencephalopathy with Metaphyseal Chondrodysplasia Lowry Wood Syndrome Macrocephaly[rgd.mcw.edu]
[…] scarification Purpose(s) Part Four: Congenital anomalies Congenital skeletal anomolies Skull malformations Craniosynostoses Complex craniofacial deformities Anencephaly Microcephaly Macrocephaly[corp.credoreference.com]
Hypochondroplasia
Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly.[ncbi.nlm.nih.gov]
Prenatal sonographic examinations performed at 32 and 35 weeks' gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly.[ncbi.nlm.nih.gov]
Abstract Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short-limbed dwarfism and macrocephaly.[ncbi.nlm.nih.gov]
Achondroplasia
Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly.[ncbi.nlm.nih.gov]
The diagnosis of achondroplasia is based on typical clinical and radiological features including short stature, macrocephaly with frontal bossing, midface hypoplasia and rhizomelic[ncbi.nlm.nih.gov]
The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomelic shortening, macrocephaly with[ncbi.nlm.nih.gov]
Mucopolysaccharidosis 6
[symptoma.com] Macrocephaly Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common.[symptoma.com]
Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common.[egl-eurofins.com]
The features of MPS VI include macrocephaly, hydrocephalus and macroglossia.[ivami.com]
Mucopolysaccharidosis 1
Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com]
Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com]
Individuals with MPS I may have a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features[ghr.nlm.nih.gov]
Beta Thalassemia
Extramedullary hematopoiesis (EMH) is a normal response to failure of hematopoiesis at its normal site i.e., bone marrow. It is a manifestation of many congenital hemolytic anemias and marrow failure secondary to myelodysplastic syndromes. Usually, extramedullary myeloid proliferation occurs in liver, spleen and lymph[…][ncbi.nlm.nih.gov]