Early Infantile Epileptic Encephalopathy Type 2
hands and feet.[mendelian.co]
]; Small hands; [Feet]; Small feet MUSCLE, SOFT TISSUE: Hypotonia NEUROLOGIC: [Central nervous system]; Seizures, infantile-onset; Hypsarrhythmia; Mental retardation, profound[genome.jp]
hands and feet, eye/vision anomalies, and global developmental delay. 6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to[mendelian.co]
Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis
hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or[rarediseases.info.nih.gov]
Additional findings include small hands and feet, loose joints, and abnormal sideways curvature of the spine (scoliosis).[rarediseases.org]
hands and feet, AND at least two of the following: Low-set ears Widely spaced eyes Small mandible Fifth-digit clinodactyly Syndactyly of toes 2 and 3 B.[ncbi.nlm.nih.gov]
Rothmund Thomson Syndrome
It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity[ncbi.nlm.nih.gov]
Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic[ncbi.nlm.nih.gov]
hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis.[ncbi.nlm.nih.gov]
X-Linked Syndromic Mental Retardation Type Armfield
Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some[malacards.org]
hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.[informatics.jax.org]
X-linked intellectual disability, Armfield type Definition: A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small[zfin.org]
Sanjad-Sakati Syndrome
All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[ncbi.nlm.nih.gov]
[…] bridges, external ear anomalies, small hands and feet, short stature, and learning difficulties [ 6 ].[alliedacademies.org]
[…] eyes, small hands and feet,mental retardation and learning difficulties, hypoparathyroidism,hypocalcemia, hyperphosphatemia, and low levels of PT c.155-166del This report[alliedacademies.org]
Kenny-Caffey Syndrome Type 1
hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull[medical-dictionary.thefreedictionary.com]
hands * Small feet * Hypoparathyroidism Causes - Kenny-Caffey syndrome- Type 1 Not supplied.[checkorphan.org]
All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[unboundmedicine.com]
Prader-Willi Syndrome
hands and feet, mild dysmorphology, and behavior problems which can be severe.[curlie.org]
hands and feet.[ncbi.nlm.nih.gov]
Down stated "Her feet and hands remained small and contrasted remarkably with the appendages they terminated.[whonamedit.com]
Scapuloperoneal Spinal Muscular Atrophy
hand Talipes equinovarus Abnormality of the musculature ... ...[familydiagnosis.com]
Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral[orpha.net]
[…] anomalies clubfoot syndrome Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Short stature-pituitary and cerebellar defects-small sella[orpha.net]
Goldberg-Shprintzen Syndrome
Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net]
We also noted maxillary hypoplasia, hypodontia, high-arched palate, short neck, small hands, brachydactyly, clinodactyly of the fifth fingers, fetal finger pads and flatfoot[doi.org]
Helsmoortel-van der Aa Syndrome
hands and ears, and that has been seen in one family to date.[findzebra.com]
The characteristic appearance includes short stature, a small rounded head flattened posteriorly, broadening of the neck, slanting eyes, a flattened nose, small broad hands[diapedia.org]
March 2006 GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small[findzebra.com]