| Organ system | Specific clinical features | Onset timing | Severity / variability | Suggested HPO terms | Key evidence |
|---|---|---|---|---|---|
| Growth / anthropometric | Fetal growth retardation; intrauterine growth restriction; low birth weight; preterm birth; accelerated linear growth disproportionate to weight gain; tall stature in childhood; low BMI / reduced body fat percentage | Prenatal to neonatal; tall stature becomes evident in childhood | Core and frequent in reported cases; growth pattern appears characteristic but absolute height varies | HP:0001511 Intrauterine growth restriction; HP:0001518 Small for gestational age; HP:0001513 Obesity not applicable / reduced adiposity better captured elsewhere; HP:0004322 Short stature not typical; HP:0000098 Tall stature; HP:0004324 Abnormality of body weight; HP:0000256 Macrocephaly when present | (pqac-00000018, pqac-00000019, pqac-00000017) |
| Metabolic / adipose | Generalized lack of subcutaneous fat; severe partial lipodystrophy / generalized lipodystrophy; poor appetite; reduced facial fat producing progeroid appearance; low body fat percentage | Congenital / neonatal, persists through childhood | Hallmark feature; severity appears high, but distribution may range from generalized to severe partial lipodystrophy in reports | HP:0009125 Lipodystrophy; HP:0001012 Generalized lipodystrophy; HP:0000280 Sparse subcutaneous fat; HP:0011968 Reduced subcutaneous adipose tissue; HP:0004396 Poor appetite | (pqac-00000018, pqac-00000019, pqac-00000005, pqac-00000014) |
| Craniofacial / progeroid appearance | Progeroid facial appearance due to loss of facial fat; dolichocephaly; prominent forehead; narrow nasal ridge; mild retrognathia / micrognathia; high-arched palate; possible craniosynostosis spectrum in some cases | Neonatal to infancy | Distinctive but variable; craniosynostosis appears uncommon/rare; dolichocephaly and frontal prominence recur across reports | HP:0000268 Dolichocephaly; HP:0011220 Prominent forehead; HP:0000445 Narrow nose / narrow nasal ridge; HP:0000278 Retrognathia; HP:0000218 High palate; HP:0000347 Micrognathia; HP:0005484 Prematurely aged appearance | (pqac-00000018, pqac-00000019, pqac-00000005) |
| Skeletal / connective tissue | Long fingers / arachnodactyly; positive wrist and thumb signs; hyperextensible finger joints / joint hypermobility; joint contractures in some reports; pes planus; marfanoid habitus | Usually recognized in infancy or childhood | Common but variably expressed; some patients show hypermobility, others contractures; overlap with Marfan-spectrum features is incomplete | HP:0001166 Arachnodactyly; HP:0001382 Joint hypermobility; HP:0001371 Flexion contracture; HP:0001763 Pes planus; HP:0001519 Marfanoid habitus | (pqac-00000018, pqac-00000017, pqac-00000028) |
| Ocular | Severe myopia / myopic astigmatism; lens dislocation / ectopia lentis variably present or absent; bilateral entropion with corneal epithelial damage in a rare case | Early childhood; entropion recognized neonatally in one case | Ocular involvement is variable; severe myopia is recurrent; ectopia lentis not universal; entropion appears rare | HP:0000545 Myopia; HP:0001083 Ectopia lentis; HP:0001133 Astigmatism; HP:0001137 Entropion; HP:0000480 Corneal epithelial defect / corneal abnormality | (pqac-00000018, pqac-00000019, pqac-00000028) |
| Cardiovascular | Mild mitral regurgitation; aortic root dilatation variably reported; some cases have normal aortic root diameter in childhood | Childhood | Important but inconsistent; seems less uniform than in classic Marfan syndrome, so surveillance is warranted even when early imaging is normal | HP:0001653 Mitral regurgitation; HP:0002616 Aortic root dilatation | (pqac-00000018, pqac-00000019, pqac-00000028) |
| Dermatologic / external appearance | Thin appearance from lipoatrophy; aged facial appearance; reduced subcutaneous tissue rather than primary skin disease | Congenital / early infancy | Usually secondary to fat loss; explicit skin pathology less well described than in other progeroid syndromes | HP:0000986 Thin skin when present; HP:0000282 Facial skin changes secondary to lipoatrophy; HP:0005484 Prematurely aged appearance | (pqac-00000018, pqac-00000019, pqac-00000017) |
| Neurodevelopment / function | Psychomotor development within normal range; cognition/intellectual development usually normal | Infancy through childhood follow-up | Available reports suggest preserved development, but case numbers are very small | HP:0001263 Global developmental delay absent in reported case; HP:0012759 Neurodevelopmental abnormality not established | (pqac-00000018, pqac-00000020) |
| Multisystem summary / syndrome-defining pattern | Combination of congenital lipodystrophy, progeroid appearance, premature birth or fetal growth restriction, and variable Marfan-like skeletal/ocular/cardiovascular manifestations | Prenatal onset with lifelong course | Extremely rare; only a small number of patients reported, so penetrance of individual features remains uncertain | HP:0009125 Lipodystrophy; HP:0005484 Prematurely aged appearance; HP:0001519 Marfanoid habitus; HP:0001511 Intrauterine growth restriction | (pqac-00000019, pqac-00000002, pqac-00000013) |


*Table: This table organizes the reported clinical phenotype of Marfanoid-Progeroid-Lipodystrophy Syndrome by organ system, including timing, variability, and suggested HPO mappings. It is useful for disease knowledge base curation and structured phenotype annotation.*