- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: PCS. Frequency: 4/7. (PMID:11180245;PMID:18382993;PMID:14684697)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: 1/1. (OMIM:215140)
- Thoracic hypoplasia (HP:0005257). Evidence: PCS. Frequency: 1/1. (PMID:14684697)
- Hypoplasia of the calcaneus (HP:0012789): Underdevelopment of the heel bone. Evidence: PCS. Frequency: 1/1. (PMID:12210303)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. Frequency: 1/1. (PMID:8213919)
- Ectopic calcification (HP:0010766): Deposition of calcium salts in a tissue or location in which calcification does not normally occur. Evidence: PCS. Frequency: 1/3. (PMID:18382993)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: PCS. Frequency: 1/2. (PMID:3377005)
- Severe short-limb dwarfism (HP:0008890). Evidence: PCS. Frequency: 1/1. (PMID:11113916)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 2/2. (PMID:11180245;PMID:12210303)
- Toxemia of pregnancy (HP:0100603): Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. Evidence: PCS. Frequency: 1/2. (PMID:3377005)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 2/5. (PMID:18382993;PMID:14684697)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: PCS. Frequency: 2/2. (PMID:12618959;PMID:12210303)
- 11 pairs of ribs (HP:0000878): Presence of only 11 pairs of ribs. Evidence: PCS. Frequency: 2/2. (PMID:11113916;PMID:12210303)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. (PMID:3377005)
- Broad palm (HP:0001169): For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. Evidence: PCS. Frequency: 2/3. (PMID:11180245;PMID:12210303)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: PCS. Frequency: 2/2. (PMID:8213919;PMID:12210303)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/1. (PMID:14684697)
- Long clavicle (HP:0000890): Increased length of the clavicles. Evidence: PCS. Frequency: 1/1. (PMID:8213919)
- Horizontal sacrum (HP:0003440). Evidence: PCS. (PMID:12210303)
- Anterior rib punctate calcifications (HP:0006619): Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. Evidence: PCS. Frequency: 1/1. (PMID:11180245)
- Decreased skull ossification (HP:0004331): A reduction in the magnitude or amount of ossification of the skull. Evidence: PCS. Frequency: 3/5. (PMID:3377005;PMID:8213919;PMID:14684697)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 4/5. (PMID:11180245;PMID:3377005;PMID:8213919;PMID:12210303)
- Fractured rib (HP:0041159): A partial or complete breakage of the rib. Evidence: PCS. Frequency: 1/3. (PMID:18382993)
- Increased nuchal translucency (HP:0010880): Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). Evidence: PCS. Frequency: 1/2. (PMID:14684697)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 17/17. (OMIM:215140;PMID:11180245;PMID:3377005;PMID:8213919;PMID:14684697)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: PCS. Frequency: 2/3. (PMID:8213919;PMID:12210303)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12618959)
- Large placenta (HP:0006267): Increased size of the placenta. Evidence: PCS. Frequency: 1/3. (PMID:18382993)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: PCS. Frequency: 4/5. (PMID:3377005;PMID:14684697)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 11/13. (PMID:18382993)
- Diaphyseal undertubulation (HP:0005019): Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones. Evidence: PCS. (PMID:8213919)
- Multiple prenatal fractures (HP:0005855): The presence of bone fractures in the prenatal period that are diagnosed at birth or before. Evidence: PCS. Frequency: 1/2. (PMID:14684697)
- Tracheal calcification (HP:0002787): Calcification (abnormal deposits of calcium) in the tracheal tissues. Evidence: PCS. Frequency: 1/1. (PMID:8213919)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: PCS. Frequency: 11/12. (PMID:3377005)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 1/3. (PMID:12210303)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 7/7. (PMID:3377005;PMID:8213919;PMID:18382993;PMID:14684697)
- Abnormal scapula morphology (HP:0000782): Any abnormality of the scapula, also known as the shoulder blade. Evidence: PCS. (PMID:11180245)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: PCS. Frequency: 2/2. (PMID:11180245;PMID:8213919)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 2/3. (PMID:3377005;PMID:8213919)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 1/1. (PMID:14684697)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 4/5. (PMID:18382993;PMID:14684697)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 2/2. (PMID:11113916;PMID:12618959)
- Echogenic fetal bowel (HP:0010943): Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. Evidence: PCS. Frequency: 2/3. (PMID:14684697)
- Aplasia of distal finger phalanx (HP:0009881). Evidence: PCS. Frequency: 1/1. (PMID:8213919)
- Ulnar deviation of the hand (HP:0009487): Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). Evidence: PCS. (PMID:12210303)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. Frequency: 3/4. (PMID:3377005;PMID:8213919;PMID:12618959)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: PCS. Frequency: 7/8. (PMID:11180245;PMID:8213919;PMID:18382993;PMID:14684697)
- Hypoplastic vertebral bodies (HP:0008479). Evidence: PCS. Frequency: 1/2. (PMID:3377005)
- Laryngeal calcification (HP:0008754): Calcification (abnormal deposits of calcium) in the laryngeal tissues. Evidence: PCS. Frequency: 2/2. (PMID:14684697)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 1/1. (PMID:14684697)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 7/8. (PMID:11180245;PMID:3377005;PMID:18382993;PMID:14684697)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 1/3. (PMID:18382993)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 3/3. (PMID:11180245;PMID:8213919;PMID:12618959)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: PCS. Frequency: 3/4. (PMID:14684697;PMID:12210303)
- Prominent supraorbital ridges (HP:0000336): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: PCS. Frequency: 1/1. (PMID:12210303)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: PCS. (PMID:3377005)
- Hepatic calcification (HP:0006559): The presence of abnormal calcium deposition in the liver. Evidence: PCS. (PMID:18382993)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 7/7. (PMID:11180245;PMID:18382993;PMID:14684697)
- Absent or minimally ossified vertebral bodies (HP:0004599). Evidence: PCS. (PMID:3377005)
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: PCS. Frequency: 2/4. (PMID:8213919;PMID:12210303)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 2/3. (PMID:3377005;PMID:12210303)
- Sternal punctate calcifications (HP:0006637). Evidence: PCS. (PMID:3377005)
- Tetraphocomelia (HP:0030721): Phocomelia involving all four extremities. Evidence: PCS. Frequency: 1/1. Onset: Fetal onset (HP:0011461). (PMID:11113916)
- Pancreatic islet-cell hyperplasia (HP:0004510): Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. Evidence: PCS. (PMID:3377005)
- Sclerosis of skull base (HP:0002694): Increased bone density of the skull base without significant changes in bony contour. Evidence: PCS. Frequency: 3/4. (PMID:11180245;PMID:8213919;PMID:12210303)
- Supernumerary vertebral ossification centers (HP:0004598): Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. Evidence: PCS. Frequency: 1/2. (PMID:12210303)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: PCS. Frequency: 1/2. (PMID:14684697)
- Patchy variation in bone mineral density (HP:0010659): Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. Evidence: IEA. (OMIM:215140)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 4/5. (PMID:8213919;PMID:14684697;PMID:12618959)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: PCS. (PMID:12210303)
- Ectopic ossification (HP:0011986): Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. Evidence: PCS. Frequency: 1/3. (PMID:18382993)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/3. (PMID:18382993)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: PCS. Frequency: 1/2. (PMID:14684697)
- Punctate vertebral calcifications (HP:0008420): The presence of punctiform calcification of the bone of the vertebral bodies. Evidence: PCS. (PMID:18382993)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. (PMID:14684697)
- Multiple rib fractures (HP:0006640): More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. Evidence: PCS. Frequency: 3/3. (PMID:14684697)
- Lethal skeletal dysplasia (HP:0005716). Evidence: PCS. (PMID:14684697)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. (PMID:14684697)
- Postaxial foot polydactyly (HP:0001830): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: PCS. Frequency: 1/4. (PMID:18382993;PMID:14684697)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 1/1. (PMID:11113916)
- Cartilaginous ossification of larynx (HP:0008747): Ossification affecting the set of cartilages of larynx. Evidence: PCS. Frequency: 1/1. (PMID:14684697)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/4. (PMID:3377005;PMID:14684697)
- Costal cartilage calcification (HP:0006646): Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. Evidence: PCS. Frequency: 1/1. (PMID:14684697)
These phenotypes are associated with the disease Greenberg dysplasia (OMIM:215140).