Rare diseases · Sign or symptom
Large for gestational age
Birth weight > 90th percentile
HP:0001520
What it means
The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate.
Rare diseases that can present with this28
Very common80–99%
6Common30–79%
15- Autosomal dominant centronuclear myopathy
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Autosomal dominant hyperinsulinism due to SUR1 deficiency
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Congenital hypothyroidism due to maternal intake of antithyroid drugs
- Distal triplication 15q syndrome
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Hyperinsulinism due to HNF1A deficiency
- Hyperinsulinism due to UCP2 deficiency
- Kagami-Ogata syndrome
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- MOMO syndrome
- Tall stature-intellectual disability-renal anomalies syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Birthweight > 90th percentile · Fetal macrosomia · Foetal macrosomia · Macrosomia · Macrosomia, neonatal
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.