Rare diseases · Sign or symptom
Polyhydramnios
High levels of amniotic fluid
HP:0001561
What it means
The presence of excess amniotic fluid in the uterus during pregnancy.
Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age.
Rare diseases that can present with this150
Very common80–99%
32- Agnathia-holoprosencephaly-situs inversus syndrome
- Arthrogryposis multiplex congenita-whistling face syndrome
- Bamforth-Lazarus syndrome
- Blomstrand lethal chondrodysplasia
- Duodenal atresia
- Duplication of the pituitary gland
- Dysplastic cortical hyperostosis, Al-Gazali type
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Fibulo-ulnar hypoplasia-renal anomalies syndrome
- HEC syndrome
- Hydrolethalus
- Kagami-Ogata syndrome
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Lethal recessive chondrodysplasia
- Methimazole embryofetopathy
- Microlissencephaly-micromelia syndrome
- Mosaic variegated aneuploidy syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Multifocal infantile hemangioma with extracutenous involvement
- Paternal uniparental disomy of chromosome 5 syndrome
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- Renal tubular dysgenesis
- Ring chromosome 8 syndrome
- Schneckenbecken dysplasia
- Tetraamelia-multiple malformations syndrome
- Tracheal agenesis
- Umbilical cord ulceration-intestinal atresia syndrome
- Unilateral ocular duplication
- VACTERL/VATER association
- VACTERL with hydrocephalus
Common30–79%
47- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Autosomal dominant centronuclear myopathy
- Bartter syndrome type 4
- Beckwith-Wiedemann syndrome
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Boomerang dysplasia
- Cerebrofaciothoracic dysplasia
- CHARGE syndrome
- Combined immunodeficiency-multiple intestinal atresia
- Congenital tracheal stenosis
- Costello syndrome
- Craniofaciofrontodigital syndrome
- DOORS syndrome
- Fetal akinesia deformation sequence
- Fryns syndrome
- Fumaric aciduria
- Geleophysic dysplasia
- Generalized arterial calcification of infancy
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Hemoglobin Bart's fetalis syndrome
- Hypomandibular faciocranial dysostosis
- Imperforate oropharynx-costovertebral anomalies syndrome
- Iniencephaly
- Intermediate nemaline myopathy
- Isolated exencephaly
- Isolated multiple intestinal atresia
- Isolated Pierre Robin sequence
- Junctional epidermolysis bullosa with pyloric atresia
- Keppen-Lubinsky syndrome
- Lethal congenital contracture syndrome type 1
- Lethal hemolytic anemia-genital anomalies syndrome
- Lethal Kniest-like dysplasia
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
- Microphthalmia-microtia-fetal akinesia syndrome
- Miller-Dieker syndrome
- Multiple mitochondrial dysfunctions syndrome type 3
- Neu-Laxova syndrome
- NPHP3-related Meckel-like syndrome
- Oculoectodermal syndrome
- Platyspondylic dysplasia, Torrance type
- Polysyndactyly-cardiac malformation syndrome
- Pontocerebellar hypoplasia type 4
- Severe congenital nemaline myopathy
- Simpson-Golabi-Behmel syndrome
- Smith-Lemli-Opitz 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hydramnios · Increased amniotic fluid index
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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.