- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/1. (PMID:18834968)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- J-shaped sella turcica (HP:0002680): A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Thenar muscle atrophy (HP:0003393): Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Hypoplasia of the capital femoral epiphysis (HP:0003090): Underdevelopment of the proximal epiphysis of the femur. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540): Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- 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:18834968)
- Arterial rupture (HP:0025019): Sudden breakage of an artery leading to leakage of blood from the circulation. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/2. (PMID:18834968)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Prolonged partial thromboplastin time (HP:0003645): Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. Evidence: PCS. Frequency: 0/1. (PMID:18834968)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Porencephalic cyst (HP:0002132): A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. Evidence: PCS. Frequency: 1/2. (PMID:18834968)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Overlapping fingers (HP:0010557): A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. Evidence: PCS. Frequency: 1/2. (PMID:18834968)
- Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471): Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Decreased palmar creases (HP:0006184): Poorly defined or shallow palmar creases. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Diaphragmatic eventration (HP:0009110): A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Abnormal prothrombin time (HP:0032199): Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: PCS. Frequency: 0/1. (PMID:18834968)
- 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:18834968)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: PCS. Frequency: 1/2. (PMID:18834968)
- Coarse hair (HP:0002208): Hair shafts are rough in texture. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/2. (PMID:18834968)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Shallow orbits (HP:0000586): Reduced depth of the orbits associated with prominent-appearing ocular globes. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 0/1. (PMID:18834968)
- 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: 2/2. (PMID:18834968)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 1/1. (PMID:18834968)
These phenotypes are associated with the disease bone fragility with contractures, arterial rupture, and deafness (OMIM:612394).