Smith-Magenis Syndrome
The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brachydactyly.[ncbi.nlm.nih.gov]
The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy.[ncbi.nlm.nih.gov]
The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge,[ncbi.nlm.nih.gov]
Pallister-Killian Syndrome
nasal bridge, short nose with upturned nares, large mouth with downturned corners and prominent upper lip.[orpha.net]
PKS has the following characteristics: low muscle tone facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes sparse[pkskids.net]
nasal bridge, hypotonia, streaks of hypo-hyperpigmentation.[fupress.net]
Trisomy 12p
nasal bridge and other facial dysmorphism.[epilepsydiagnosis.org]
nasal bridge, high arched or cleft palate, carp shaped mouth and small hands and feet.[epilepsydiagnosis.org]
nasal bridge, midface hypoplasia, hypotonic facies, low-set abnormal ears, pointed chin and shortened hands and feet.[epilepsydiagnosis.org]
Homocystinuria
The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[ncbi.nlm.nih.gov]
Down Syndrome
bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also trisomy 21 First Known Use of Down syndrome[merriam-webster.com]
bridge, protruding tongue, high-arched palate, dental abnormalities, and a short and broad neck.[symptoma.com]
bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down , Down's , trisomy 21 Comments on Down[merriam-webster.com]
Mucopolysaccharidosis 2
Abstract Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven[…][ncbi.nlm.nih.gov]
Mucopolysaccharidosis 1
STUDY DESIGN: A retrospective radiographical follow-up study of thoracolumbar deformity in 33 children with mucopolysaccharidosis 1 (Hurler syndrome). OBJECTIVE: To report the severity, natural history, risk factors for progression, and results of intervention for thoracolumbar kyphosis in children with Hurler[…][ncbi.nlm.nih.gov]
Mucopolysaccharidosis 6
Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI , [1] MPS VI , or polydystrophic dwarfism ) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB). [2] It is named after Pierre Maroteaux (1926–) and his mentor Maurice Emil Joseph Lamy (1895–1975), both French[…][en.wikipedia.org]
Achondroplasia
[…] achon·dro·pla·sia \ ˌā-ˌkän-drə-ˈplā-zh(ē-)ə \ Definition of achondroplasia : a genetic disorder that is marked by abnormally slow conversion of cartilage to bone during development resulting in a form of dwarfism characterized by a usually normal torso and shortened limbs and that is usually inherited as an[…][merriam-webster.com]
Mucopolysaccharidosis
Acta Neurochir (Wien). 2013 Oct;155(10):1973-6. doi: 10.1007/s00701-013-1831-9. Epub 2013 Aug 6. Author information 1 Craniofacial Unit, Department of Pediatric Neurosurgery, Hôpital Universitaire Necker-Enfants Malades, APHP, 149 Rue de Sèvres, 75015, Paris, France, [email protected] Abstract[…][ncbi.nlm.nih.gov]