Mucopolysaccharidosis 2
Coarsening of facial features – the result of macroglossia, prominent supraorbital ridges, a broad nose, a broad nasal bridge, and deposition of GAG in the soft tissues of[ncbi.nlm.nih.gov]
Mucopolysaccharidosis
Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][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]
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]
[…] profile, high forehead with temporo-frontal balding, sparseness of eyebrows and lashes, shallow supraorbital ridges, upslanting palpebral fissures, hypertelorism, flat and broad[orpha.net]
Achondroplasia
bridge, lumbar lordosis Imaging Short, thick tubular bones, irregular epiphyseal plates; broad, cupped diaphyses; delayed epiphyseal ossification Management Osteotomies for[medical-dictionary.thefreedictionary.com]
Skull shows a bulging vault, small face and a flat nasal bridge or 'scooped out' glabella. Spine shows marked lumbar lordosis. Frontal bossing, depressed nasal bridge.[patient.info]
Features Bowing of extremities, waddling gait, limited ROM of major joints, frontal bossing, short stubby fingers, moderate hydrocephalus, depressed nasal bridge, lumbar lordosis[medical-dictionary.thefreedictionary.com]
Mowat-Wilson Syndrome
Facial properties include prominent narrow chin, open mouth, cupped ears with protruding lobes, broad nasal bridge with rounded nasal tip, and wide set eyes.[mowatwilson.org]
Mowat-Wilson syndrome: a genetic ( inherited ) condition present at birth that features square-shaped face with deep-set, widely spaced eyes, a broad nasal bridge , pointed[medicinenet.com]
Tel Hashomer Camptodactyly Syndrome
Clinical description Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth.[orpha.net]
Aarskog-Scott Syndrome
The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov]
bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov]
Facies hypertelorism (90%) small nose with anteverted nares (90%) broad philtrum (85%) broad nasal bridge (85%) abnormally-shaped auricles (75%) widow's peak (60%) ptosis[web.archive.org]
Mucopolysaccharidosis 1
Mucopolysaccharidosis 1 is a rare lysosomal storage disease provoked by mutations of the gene encoding for alpha-L-iduronidase, an enzyme required for the breakdown of determined glycosaminoglycans. Depending on the severity of the disease, patients may be diagnosed with Scheie syndrome, Hurler Scheie syndrome[…][symptoma.com]