Create issue ticket

419 Possible Causes for Macrocephaly, Short Stature in Children

  • 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] Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com]

  • Mucopolysaccharidosis 2

    The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[dovemed.com] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] MPS IIA Common presenting signs and symptoms in children with classic MPS IIA include progressive coarsening of facial features, short stature, joint stiffness, hepatosplenomegaly[emedicine.medscape.com]

  • Achondroplasia

    Abstract Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly.[ncbi.nlm.nih.gov] The most common reasons for short stature in children are familial short stature, a difference in the timing of growth (called constitutional growth delay) and, in girls,[gemssforschools.org] 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]

  • Hypochondroplasia

    Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly.[ncbi.nlm.nih.gov] In addition to the obvious limb deformities of short stature and bowing, children with achondroplasia typically have frontal bossing (prominent forehead), midface hypoplasia[paleyinstitute.org] Macrocephaly was noted in approximately half the cases. This contradicts a finding of normocephaly in previous studies.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Corneal clouding and cognitive impairment develop, as well as cessation of growth, causing short stature. Joint stiffness and contractures limit mobility.[patient.info] 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]

  • Mucopolysaccharidosis 7

    The features of MPS VII include a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "[ghr.nlm.nih.gov] The symptoms include: in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped[en.wikipedia.org]

  • Russell-Silver Syndrome

    Among RSS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM.[ncbi.nlm.nih.gov] Russell-Silver syndrome (RSS) is characterized by slow growth both in utero and after birth, short stature, and specific facial features.[gemssforschools.org] Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry[ncbi.nlm.nih.gov]

  • Thanatophoric Dysplasia

    Two fetuses of TD1 were characterized by polyhydramnios, macrocephaly, short limbs, a narrow thoracic cage and curved short femora, but without a cloverleaf skull at 27 and[ncbi.nlm.nih.gov] Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[ghr.nlm.nih.gov] Abstract Thanatophoric dysplasia (TD) is the most common form of lethal neonatal dwarfism with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced[ncbi.nlm.nih.gov]

  • Robinow Syndrome

    The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies.[ncbi.nlm.nih.gov] Most children with Robinow syndrome experience growth delays after birth, resulting in slight to moderate short stature.[rarediseases.org] To the Editor: We report a father and daughter with Robinow syndrome characterized by macrocephaly, hypertelorism, brachydactyly, short arms, and mild short stature ( Fig.[nature.com]

  • Skeletal Dysplasia

    Abstract An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant.[ncbi.nlm.nih.gov] Skeletal dysplasias are a group of genetic disorders characterized by short stature. They are frequently associated with a range of orthopaedic problems.[muhealth.org] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[ncbi.nlm.nih.gov]

Further symptoms

Similar symptoms