Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome, Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), is a rare form of autosomal recessive congenital muscular dystrophy. It is associated with brain and eye abnormalities. This condition has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years.
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers.
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938.
Tsukuhara syndrome, also known as Radioulnar synostosis-microcephaly-scoliosis syndrome is an infrequently occurring genetic skeletal dysplasia which is characterized by a combination of radioulnar synostosis, microcephaly, scoliosis, short height, and intellectual disabilities. Only 13 cases worldwide have been described in medical literature.
Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene mutation. However, it was recently shown to the same disease as Hay–Wells syndrome.
Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in 2007 and is often mistaken for neurofibromatosis type I (NF-1). It is caused by mutations in the SPRED1 gene. It is also known as neurofibromatosis type 1-like syndrome (NFLS).
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2
Absence of fingerprints-congenital milia syndrome, also known simply as Baird syndrome is an extremely rare autosomal dominant genetic disorder which is characterized by a lack of fingerprints and the appearance of blisters and facial milia soon after birth. It has been described in ten families worldwide.
Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, hypomobility of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner.
Du Pan syndrome, also known as fibular hypoplasia and complex brachydactyly is an extremely rare genetic disorder which is characterized by hypoplasia, aplasia or dysplasia of the fibula, under-developee/abnormally developed hands and feet and rather complex brachydactyly. Unlike other rare genetic disorders, Du Pan syndrome doesn't affect traits like intellect or the appearance of the head and trunk To this day, 18 cases have been reported in medical literature. This disorder is associated with mutations in the CDCP1 gene, in chromosome 20q11.2. The mode of inheritance varies family from family, but it is most commonly inherited in an autosomal recessive manner, rare cases have families where the mode of inheritance is autosomal dominant.
Brachial amelia, cleft lip, and holoprosencephaly is a very rare multi-systemic genetic disorder which is characterized by brachial amelia cleft lip, and forebrain defects such as holoprosencephaly. Approximately five cases of this disorder have been described in medical literature.
Spondylocamptodactyly, also known as Spondylocamptodactyly syndrome, is a very rare multi-systemic genetic disorder which is characterized by the presence of camptodactyly, flattened vertebrae and thoracic scoliosis of varying degrees. It has been described in 5 members of a 3-generation family, however; the inheritance pattern still remains unclear, since 3 females belonging to the 3rd generation of the family were the result of a consanguineous marriage. The other affected (2) members had inherited the disorder following an autosomal dominant fashion. It is thought to be inherited in an either autosomal dominant or autosomal recessive with pseudodominance pattern.
Polydactyly-myopia syndrome, also known as Czeizel-Brooser syndrome, is a very rare genetic disorder which is characterized by post-axial polydactyly on all 4 limbs and progressive myopia. Additional symptoms include bilateral congenital inguinal hernia and undescended testes. It has only been described in nine members of a 4-generation Hungarian family in the year 1986. This disorder is inherited in an autosomal dominant manner.
Tucker syndrome, also known as Ptosis-vocal cord paralysis syndrome, is a very rare genetic disorder which is characterized by congenital bilateral ptosis and recurrent laryngeal nerve paresis. Additional findings include short stature. It was described in a small 2-generation family.
Growth delay-hydrocephaly-lung hypoplasia syndrome, also known as Game-Friedman-Paradice syndrome is a very rare hereditary disorder which is characterized by developmental, lung, and brain anomalies. Only 4 cases have been reported in medical literature.
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of achondroplasia which is characterized by short stature, bowing of the long bones, and generalized metaphyseal abnormalities alongside signs of SCID such as recurrent severe infections, failure to thrive, chronic diarrhea, and a notable absence of T and B lymphocytes. It is inherited in an autosomal recessive manner. Around 11 cases have been described in medical literature.
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome is a rare genetic bone disorder which is characterized by the presence of wormian bones in the skull, dentinogenesis imperfecta, recurrent bone fractures, hypertelorism, and eye puffiness. This disorder is unique from osteogenesis imperfecta because of the presence of cortical defects and the absence of defective collagen or osteopenia. It is not exactly known whether this condition is autosomal dominant or autosomal recessive.
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare genetic disorder characterized by spondylometaphyseal dysplasia, neonatal growth delays, and cone-rod dystrophy-associated progressive vision loss. Only 18 patients from families in the United States, the United Kingdom, Japan, and Brazil have been described to date. This condition is caused by autosomal recessive mutations in the PCYT1A gene, located in chromosome 3.
