Phenotypes associated with the disease Ehlers-Danlos syndrome, dermatosparaxis type (OMIM:225410):
- 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: PCS. Frequency: 5/5. (PMID:26765342)
- Blepharochalasis (HP:0010749): Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Evidence: PCS. Frequency: 3/10. (PMID:26765342)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/4. (PMID:26765342)
- Delayed closure of the anterior fontanelle (HP:0001476): A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Evidence: PCS. Frequency: 4/4. (PMID:26765342)
- Gingival hyperkeratosis (HP:0000222): Hyperkeratosis of the gingiva. Evidence: PCS. Frequency: 2/2. (PMID:26765342)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: PCS. Frequency: 4/5. (PMID:26765342)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 3/3. (PMID:26765342)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:225410)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:225410)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: PCS. Frequency: 5/5. (PMID:26765342)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 4/4. (PMID:26765342)
- Recurrent mandibular subluxations (HP:0005332): Recurrent partial dislocations of the mandible. Evidence: IEA. (OMIM:225410)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: PCS. Frequency: 3/4. (PMID:26765342)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:26765342)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 3/5. (PMID:26765342)
- 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: IEA. (OMIM:225410)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. (OMIM:225410)
- 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: 4/4. (PMID:26765342)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 5/5. (PMID:26765342)
- Soft, doughy skin (HP:0001027): A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. Evidence: PCS. Frequency: 5/5. (PMID:26765342)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: IEA. Frequency: 6/15. (OMIM:225410)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 2/4. (PMID:26765342)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 4/4. (PMID:26765342)
- Premature rupture of membranes (HP:0001788): Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. Evidence: PCS. Frequency: 6/15. (PMID:26765342)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:225410)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 9/15. (PMID:26765342)
- Spontaneous neonatal pneumothorax (HP:0004876): Pneumothorax occurring neonatally without traumatic injury to the chest or lung. Evidence: PCS. Frequency: 1/15. (PMID:26765342)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 4/5. (PMID:26765342)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: PCS. Frequency: 4/4. (PMID:26765342)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: IEA. (OMIM:225410)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 5/5. (PMID:26765342)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 5/5. (PMID:26765342)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: PCS. Frequency: 2/5. (PMID:26765342)
- Frontal open bite (HP:0200094). Evidence: TAS. (OMIM:225410)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 2/5. (PMID:26765342)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 1/2. (PMID:26765342)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 5/5. (PMID:26765342)
- 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:10417273)
- 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: 2/5. (PMID:26765342)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 4/5. (PMID:26765342)
- 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: 3/4. (PMID:26765342)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: PCS. Frequency: 1/1. (PMID:26765342)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: IEA. (OMIM:225410)