Phenotypes associated with the disease fibrochondrogenesis 1 (OMIM:228520):
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: IEA. (OMIM:228520)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: IEA. (OMIM:228520)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: IEA. (OMIM:228520)
- Megalocornea (HP:0000485): An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. Evidence: TAS. (OMIM:228520)
- Thoracic hypoplasia (HP:0005257). Evidence: PCS. (PMID:21035103)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: IEA. (OMIM:228520)
- 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: IEA. (OMIM:228520)
- Posterior vertebral hypoplasia (HP:0008451). Evidence: IEA. (OMIM:228520)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: IEA. (OMIM:228520)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: IEA. (OMIM:228520)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: IEA. (OMIM:228520)
- Broad long bones (HP:0005622): Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. Evidence: TAS. (OMIM:228520)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:228520)
- Long clavicle (HP:0000890): Increased length of the clavicles. Evidence: TAS. (OMIM:228520)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:228520)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. (PMID:21035103)
- 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:21035103)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: IEA. (OMIM:228520)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: IEA. (OMIM:228520)
- Posterior rib cupping (HP:0000922): Wide, concave posterior rib end. Evidence: PCS. (PMID:21035103)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: IEA. (OMIM:228520)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. (PMID:21035103)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. (OMIM:228520)
- 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: IEA. (OMIM:228520)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: IEA. (OMIM:228520)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:21035103)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: IEA. (OMIM:228520)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: IEA. (OMIM:228520)
- 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. (PMID:21035103)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: IEA. (OMIM:228520)
- Widely patent sagittal suture (HP:0005476): The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. Evidence: IEA. (OMIM:228520)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: IEA. (OMIM:228520)
- Hypoplastic ischia (HP:0003175): Underdevelopment of the ischium, which forms the lower and back part of the hip bone. Evidence: TAS. (OMIM:228520)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: IEA. (OMIM:228520)
- Broad ischia (HP:0100865): Increased width of the ischium, which forms the lower and back part of the hip bone. Evidence: TAS. (OMIM:228520)
- 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: IEA. (OMIM:228520)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: IEA. (OMIM:228520)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. (PMID:21035103)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. (OMIM:228520)
- Short palm (HP:0004279): Short palm. Evidence: IEA. (OMIM:228520)
- Widely patent coronal suture (HP:0005442): The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. Evidence: IEA. (OMIM:228520)
- 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: IEA. (OMIM:228520)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:228520)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:228520)
- Anterior rib cupping (HP:0000907): Wide, concave anterior rib end. Evidence: TAS. (OMIM:228520)
- Dumbbell-shaped long bone (HP:0000947): An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. Evidence: TAS. (OMIM:228520)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:228520)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:228520)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. (OMIM:228520)
- Thin clavicle (HP:0006645): Abnormally reduced diameter (cross section) of the clavicles. Evidence: TAS. (OMIM:228520)