Chromosome 19q13.11 Deletion Syndrome
Get Update Overview Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus[diseaseinfosearch.org]
From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.[link.springer.com]
habitus with little subcutaneous fat, facial dysmorphic features, signs of ectodermal dysplasia, cutis aplasia and feeding problems.[link.springer.com]
Homocystinuria
Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence[fpnotebook.com]
Clinical features include a tall slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence[icd10data.com]
habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency[fpnotebook.com]
Motor Neuron Disease Type Madras
Classically majority had a slender habitus. The salient neurological symptoms and signs among these 10 patients are shown in Table 1 .[ncbi.nlm.nih.gov]
Cystathioninuria
habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency[icd9data.com]
[…] metabolism usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine; clinical features include a tall, slender[icd9data.com]
Bethlem Myopathy
She had a thin slender habitus, with severe contractures at the shoulders, elbows, hips, knees, ankles, and spine.[neurologyindia.com]
Alternating Hemiplegia of Childhood
habitus.[ncbi.nlm.nih.gov]
[…] patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender[ncbi.nlm.nih.gov]
Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly (CCA) is characterized by a Marfan-like appearance (tall, slender habitus in which arm span exceeds height) and long, slender fingers[ncbi.nlm.nih.gov]
The following are seen in individuals with CCA: Marfan syndrome-like appearance characterized by a tall and slender habitus with arm span exceeding height Arachnodactyly ([ncbi.nlm.nih.gov]
[…] long slender fingers and toes) "Crumpled" ears that present as a folded upper helix of the external ear Joint contractures at birth: Knees (81%) and elbows (86%) are most[ncbi.nlm.nih.gov]
Diaphyseal Medullary Stenosis - Bone Malignancy Syndrome
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety. [ read more ] 20673863[nectarmutation.org]
Sotos Syndrome
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.[uniprot.org]
Aplasia Cutis - Myopia Syndrome
From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.[molecularcytogenetics.biomedcentral.com]
habitus with little subcutaneous fat, facial dysmorphic features, signs of ectodermal dysplasia, cutis aplasia and feeding problems.[molecularcytogenetics.biomedcentral.com]
habitus, feeding difficulties, cutis aplasia over the posterior occiput, signs of ectodermal dysplasia, and genital malformation in males (hypospadias).[molecularcytogenetics.biomedcentral.com]