Phenotypes associated with the disease diaphanospondylodysostosis (OMIM:608022):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. (OMIM:608022)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. (OMIM:608022)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: TAS. (OMIM:608022)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. (OMIM:608022)
- 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: TAS. (OMIM:608022)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: PCS. Frequency: 1/3. (PMID:30006055)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:608022)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: TAS. (OMIM:608022)
- 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: TAS. (OMIM:608022)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. (OMIM:608022)
- Tracheomalacia (HP:0002779). Evidence: TAS. (OMIM:608022)
- Hammertoe (HP:0001765): Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. Evidence: TAS. (OMIM:608022)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. (OMIM:608022)
- Absent in utero rib ossification (HP:0006615): Lack of formation and mineralization of the ribs in utero. Evidence: TAS. (OMIM:608022)
- 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: TAS. (OMIM:608022)
- Decreased skull ossification (HP:0004331): A reduction in the magnitude or amount of ossification of the skull. Evidence: PCS. Frequency: 3/3. (PMID:30006055)
- 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: TAS. (OMIM:608022)
- Late first trimester onset (HP:0034199): This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). Evidence: PCS. Frequency: 2/3. (PMID:30006055)
- 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: 2/3. (PMID:30006055)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 1/3. (PMID:30006055)
- Cystic renal dysplasia (HP:0000800). Evidence: TAS. (OMIM:608022)
- Missing ribs (HP:0000921): A developmental anomaly with absence of one or more ribs. Evidence: TAS. (OMIM:608022)
- 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:20869035)
- Nephroblastomatosis (HP:0008643): Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. Evidence: TAS. (OMIM:608022)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. (OMIM:608022)
- 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: TAS. (OMIM:608022)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. (OMIM:608022)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. (OMIM:608022)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: TAS. (OMIM:608022)
- Delayed vertebral ossification (HP:0031096): A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. Evidence: PCS. Frequency: 3/3. (PMID:30006055)
- Absent in utero ossification of vertebral bodies (HP:0008435). Evidence: PCS. Frequency: 2/2. (PMID:30006055)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: TAS. (OMIM:608022)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. (OMIM:608022)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: TAS. (OMIM:608022)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/3. (PMID:30006055)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. (OMIM:608022)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. (OMIM:608022)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. (OMIM:608022)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. (OMIM:608022)
- Nephrogenic rest (HP:0100880): Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. Evidence: TAS. (OMIM:608022)
- Abnormal liver lobulation (HP:0100752): Formation of abnormal lobules (small masses of tissue) in the liver. Evidence: TAS. (OMIM:608022)
- Lumbosacral meningocele (HP:0200133). Evidence: TAS. (OMIM:608022)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. (OMIM:608022)
- Absent fetal nasal bone (HP:0025706): The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy. Evidence: PCS. Frequency: 1/3. (PMID:30006055)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. (OMIM:608022)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. (OMIM:608022)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. (OMIM:608022)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: TAS. (OMIM:608022)
- Unossified sacrum (HP:0030290): Lack of ossification of the sacrum. Evidence: TAS. (OMIM:608022)