DeCure for Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for developmental delay with short stature, dysmorphic facial features, and sparse hair 2 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleDevelopmental delay with short stature, dysmorphic facial features, and sparse hair 2 maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for developmental delay with short stature, dysmorphic facial features, and sparse hair 2 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
What the evidence adds up to
The molecular basis of Hallermann-Streiff syndrome remains unknown as of 2018, despite its highly recognisable craniofacial dysmorphism, eye malformations, hair and skin abnormalities, short stature, and occasional premature aging features. No gene has been identified, and the review offers only future strategies for gene identification rather than a current molecular link.
Floating-Harbor syndrome, caused by SRCAP mutations, presents with short stature, facial dysmorphism, delayed bone age, skeletal abnormalities, speech problems, and intellectual disabilities. A single case report describes a 7-year-old girl with a heterozygous c.7330C>T (p.Arg2444*) mutation who had severe intellectual disabilities, obsessive-compulsive and aggressive behaviours, and short stature without growth hormone deficiency. After 55 months of growth hormone therapy, her height standard deviation score improved. Only a few reports have investigated growth hormone therapy for final adult height in this syndrome.
DPH1 syndrome, also called Loucks-Innes syndrome or DEDSSH, is an ultra-rare neurodevelopmental disorder with fewer than 20 reported patients from different ethnicities by 2021. The first Chinese adult with a genetically confirmed DPH1 syndrome is described; developmental delay, unusual skull shape, sparse hair, and facial dysmorphism were consistently present in all reported patients. Dysplastic toenails and dental abnormalities are age-dependent. This patient was the first reported with documented growth hormone deficiency. The authors recommend dental and endocrine checkup in routine follow-up.
A de novo 2.76-Mb deletion of 2q36.3q37.1 encompassing TRIP12 and NPPC produced a distinct phenotype including developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy. TRIP12 haploinsufficiency alone causes developmental delay with isolated dysmorphic facial features, while NPPC haploinsufficiency causes short stature and small hands. This is the first report of a phenotype from a microdeletion covering both genes. What is still missing for all these syndromes are larger patient cohorts, systematic long-term treatment data for growth hormone therapy, and, for Hallermann-Streiff syndrome, any identified molecular cause at all.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2018 · 25 citations
Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome
AbstractThe use of modern next-generation sequencing-based approaches for gene identification has tremendously improved our understanding of the molecular pathogenesis of the great majority of well-known syndromes, whereas only a few remain to be elucidated. Hallermann-Streiff syndrome is such a disorder for which the molecular basis is still unknown although it represents a highly recognizable phenotype. Clinically, patients with Hallermann-Streiff syndrome show typical craniofacial dysmorphism, eye malformations, a distinctive facial appearance, abnormalities of hair and skin, short stature, and, interestingly, they might also present with aspects of premature aging. The clinical diagnosis is mainly given by the very typical facial gestalt of patients. In this review, we (a) summarize the current knowledge on the phenotypic traits, focusing on described classic cases, (b) discuss the missing molecular link, and (c) present innovative future strategies for gene identification.
Annals of Pediatric Endocrinology & Metabolism · 2020 · 11 citations · open access
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
AbstractFloating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with FloatingHarbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.
American Journal of Medical Genetics Part A · 2021 · 5 citations
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (<scp>Loucks‐Innes</scp> syndrome)
AbstractVariants of the diphthamide biosynthesis I (DPH1, OMIM*603527) are associated with developmental delay, short stature, and sparse hair syndrome (DEDSSH/DPH1 syndrome) (OMIM# 616901). Another name is Loucks-Innes syndrome. DPH1 syndrome is an ultrarare and severe neurodevelopmental disorder. Less than 20 patients were reported from different ethnicities. Here, we described the first Chinese adult with genetically confirmed DPH1 syndrome. We summarized previously reported patients in the literature and found that developmental delay, unusual skull shape, sparse hair, and facial dysmorphism were consistently present in all DPH1 syndrome patients. Dysplastic toenails and dental abnormalities are age-dependent characteristics of DPH1 syndrome. Our patient was the first reported patient with documented growth hormone deficiency. Dental and endocrine checkup should be considered in the routine follow-up of DPH1 syndrome patients.
Human Genome Variation · 2020 · 3 citations · open access
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
AbstractAbstract We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC . TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC .
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
