Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the skin, Aplastic clavicle, Bifid uvula, Brachydactyly, Broad clavicles, Broad forehead, Broad ribs, Choanal atresia, Choanal stenosis, Chordee, Cleft palate, Cranial hyperostosis, Cryptorchidism, Cutis laxa, Cutis marmorata, Delayed cranial suture closure, Delayed skeletal maturation, Diaphyseal undertubulation, Elbow ankylosis, Elbow flexion contracture, Epispadias, External genital hypoplasia, Facial hyperostosis, Facial palsy, Failure to thrive, Femoral hernia, Finger syndactyly, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, High, narrow palate, Humeroradial synostosis, Hydrocephalus, Hyperconvex fingernails, Hyperextensibility of the finger joints, Hypertelorism, Hypogonadism, Hypoplastic fingernail, Hypospadias, Hypotonia, Increased bone mineral density, Intellectual disability, Intellectual disability, moderate, Intrauterine growth retardation, Knee flexion contracture, Kyphosis, Lacrimal duct stenosis, Large fontanelles, Limitation of joint mobility, Macrocephaly, Macrotia, Mandibular prognathia, Microcephaly, Microglossia, Micrognathia, Osteopetrosis, Prematurely aged appearance, Progressive sclerosis of skull base, Prominent forehead, Prominent scalp veins, Proximal symphalangism of hands, Redundant skin, Relative macrocephaly, Scoliosis, Sensorineural hearing impairment, Severe short stature, Short palm, Short stature, Sparse hair, Specific learning disability, Submucous cleft hard palate, Symphalangism affecting the phalanges of the hand, Syndactyly, Thick vermilion border, Thickened calvaria, Thin skin, Wide mouth, obsolete Abnormality of the metacarpal bones, obsolete Joint hyperflexibility