Rare diseases · Sign or symptom
Underdeveloped nasal alae
Underdeveloped tissue around nostril
HP:0000430
What it means
Thinned, deficient, or excessively arched ala nasi.
The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed.
Rare diseases that can present with this74
Very common80–99%
18- Ablepharon macrostomia syndrome
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Blepharonasofacial malformation syndrome
- Deafness-craniofacial syndrome
- Faciocardiorenal syndrome
- Filippi syndrome
- Flat face-microstomia-ear anomaly syndrome
- Freeman-Sheldon syndrome
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Gingival fibromatosis-facial dysmorphism syndrome
- Johanson-Blizzard syndrome
- Koolen-De Vries syndrome
- Oculodentodigital dysplasia
- Potocki-Shaffer syndrome
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- Roberts syndrome
- Trisomy 18p syndrome
Common30–79%
41- 13q12.3microdeletion syndrome
- 14q22q23microdeletion syndrome
- 19q13.11microdeletion syndrome
- 1q41q42microdeletion syndrome
- 2q37microdeletion syndrome
- 8q21.11microdeletion syndrome
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Bartsocas-Papas syndrome
- Deafness with labyrinthine aplasia, microtia, and microdontia
- Diastrophic dysplasia
- Distal 22q11.2 microdeletion syndrome
- Distal deletion 6p syndrome
- Focal dermal hypoplasia
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- Hallermann-Streiff syndrome
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Intellectual disability-brachydactyly-Pierre Robin syndrome
- Isolated arrhinia
- KBG syndrome
- Keppen-Lubinsky syndrome
- Keutel syndrome
- Laurin-Sandrow syndrome
- McDonough syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Non-syndromic bilambdoid and sagittal craniosynostosis
- Oculoauriculofrontonasal syndrome
- Oculomaxillofacial dysostosis
- Orofaciodigital syndrome type 1
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Pontocerebellar hypoplasia type 10
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Roifman syndrome
- Waardenburg-Shah syndrome
- Waardenburg syndrome
- Waardenburg syndrome type 1
- X-linked intellectual disability-craniofacioskeletal syndrome
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Sometimes5–29%
15- 19p13.3microduplication syndrome
- ALG9-CDG
- Bainbridge-Ropers syndrome
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Contractures-developmental delay-Pierre Robin syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Fraser syndrome
- Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
and 7 more in this range
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: Ala nasi, underdeveloped · Alar cartilage hypoplasia · Decreased size of nasal alae · Hypoplastic alae nasae · Hypoplastic alae nasi · Hypoplastic alar cartilage · Hypoplastic alar nasae · Hypoplastic nares
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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.