Phenotypes associated with the disease cocoon syndrome (OMIM:613630):
- Absent ossification of calvaria (HP:0005623): Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- Lower limb undergrowth (HP:0009816): Leg shortening because of underdevelopment of one or more bones of the lower extremity. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:20961246)
- Abnormal nasal morphology (HP:0005105). Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:20961246)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- 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: 1/2. (PMID:20961246)
- Intracranial cystic lesion (HP:0010576): A cystic lesion originating within the brain. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- Bilateral trilobed lung (HP:0011861): Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. Evidence: PCS. Frequency: 1/2. (PMID:20961246)
- 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: 2/2. (PMID:20961246)
- 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:20961246)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 1/2. (PMID:20961246)
- 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:20961246)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- Hypoplasia of the musculature (HP:0009004): Underdevelopment of the musculature. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- 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: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:20961246)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- Absent stratum granulosum of epidermis (HP:0025815): The stratum granulosum of the epidermis (granular layer) cannot be observed. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/2. (PMID:20961246)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. Frequency: 2/2. (PMID:20961246)
- Upper limb undergrowth (HP:0009824): Arm shortening because of underdevelopment of one or more bones of the upper extremity. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:20961246)