- Poroma (HP:0031405): A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]. Evidence: IEA. (OMIM:224750)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:224750)
- Squamous cell carcinoma (HP:0002860): The presence of squamous cell carcinoma of the skin. Evidence: IEA. (OMIM:224750)
- Bird-like facies (HP:0000320). Evidence: IEA. (OMIM:224750)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: IEA. (OMIM:224750)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 1/1. (PMID:19559398)
- Narrow nail (HP:0011313): Decreased width of nail. Evidence: TAS. (OMIM:224750)
- Apocrine hidrocystoma (HP:0031454): A cystic lesions that forms a benign tumor of an apocrine sweat gland. Evidence: IEA. (OMIM:224750)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 1/1. (PMID:19559398)
- Multiple eyelid margin cysts (HP:0034946): Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids. Evidence: PCS. Frequency: 1/1. (PMID:19559398)
- Thin nail (HP:0001816): Nail that appears thin when viewed on end. Evidence: TAS. (OMIM:224750)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/1. (PMID:19559398)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: TAS. (OMIM:224750)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: IEA. (OMIM:224750)
- Onycholysis (HP:0001806): Detachment of the nail from the nail bed. Evidence: IEA. (OMIM:224750)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 1/1. (PMID:19559398)
- 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:19559398)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/1. (PMID:19559398)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 1/1. (PMID:19559398)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: PCS. Frequency: 1/1. (PMID:19559398)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: IEA. (OMIM:224750)
These phenotypes are associated with the disease Schöpf-Schulz-Passarge syndrome (OMIM:224750).