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PubMed This is a summary of 11 peer-reviewed journal articles Updated
Pediatrics

Physical Features and Multisystem Symptoms

At a Glance

Johanson-Blizzard syndrome can cause a wide range of physical features and problems involving several body systems, including nasal and scalp differences, dental and growth concerns, hypothyroidism, and internal-organ differences. Not every child has every feature.

Johanson-Blizzard Syndrome (JBS) is a multisystem condition. While it is defined by a specific set of features, it is also known for its phenotypic variability—the symptoms and their severity differ greatly from one child to another, even between siblings who have the exact same genetic mutation [1][2]. Not every child will have every feature listed here.

Craniofacial, Skin, and Hair Features

The most recognizable features of JBS often involve the face and scalp. These are typically present at birth.

  • Nasal Features: The most common sign is hypoplastic nasal alae, where the sides or “wings” of the nose are small, underdeveloped, or missing [3][4]. This gives the nose a distinct, narrowed appearance.
  • Scalp and Hair: Some infants are born with aplasia cutis congenita—small areas on the scalp where the skin did not fully form before birth [3][1]. These areas need gentle wound care as directed by your doctor. You may also notice an unusual hair pattern, such as hair that grows upward at the forehead [4][5].
  • Dental Anomalies: As your child grows, their teeth may be affected. This can include hypodontia (missing teeth) or teeth that are unusually shaped or small [6][7]. Early consultation with a pediatric dentist is recommended.
  • Other Facial Findings: While variable, some children may have a high-arched palate, a small jaw (micrognathia), or a small head size (microcephaly) [3][8].

Congenital Malformations

JBS can also affect how internal organs form before birth. These are reported in some individuals but are not universally present. Your medical team may use imaging like ultrasounds to check for them if symptoms suggest it.

  • Anorectal Issues: Some babies are born with an imperforate anus, where the opening to the anus is missing or blocked, requiring early surgical correction [9].
  • Urogenital System: There can be differences in the urinary and reproductive tracts. This may include vesicoureteral reflux (where urine flows backward toward the kidneys), kidney cysts, or a urogenital sinus (where the urinary and reproductive openings share a single channel) [9][3].
  • Skeletal Features: Occasionally, small differences in the hands or feet, such as a shortened fifth finger, may be noted [1].

Endocrine Risks

The endocrine system—the glands that produce hormones—can also be involved. Some endocrine issues may develop as your child grows.

  • Thyroid Function: Hypothyroidism (an underactive thyroid) is frequently reported in JBS [3]. This can sometimes be “subclinical,” meaning it is only detectable through blood tests before physical symptoms appear.
  • Blood Sugar: While JBS primarily affects the exocrine pancreas (digestion), there are small case reports of it affecting the endocrine pancreas, leading to diabetes mellitus [5]. This is not expected in every child, and screening intervals should be determined by your treating team based on symptoms.
  • Growth: Because of the combination of digestive issues and hormone levels, many children with JBS face challenges with growth and may be smaller than their peers [10][11].

Understanding these features is the first step in creating a monitoring plan. Because the condition is so variable, regular check-ups with a coordinated team of specialists will help ensure that each symptom is addressed [1].

Common questions in this guide

What physical features are most often seen in Johanson-Blizzard syndrome?
The most recognizable features often include underdeveloped or missing sides of the nose and small areas of missing scalp skin present at birth. Some children also have unusual hair growth, dental differences, a high-arched palate, a small jaw, or a small head. Features vary, and not every child has all of them.
Can Johanson-Blizzard syndrome affect a child's internal organs?
Yes. Some children have a missing or blocked anal opening, urinary or reproductive tract differences, kidney cysts, or urine flowing backward toward the kidneys. These findings are not present in every child, so the medical team may use newborn examinations or imaging when there is a concern.
How often should a child with JBS have thyroid testing?
An underactive thyroid is frequently reported in JBS and can be present without obvious symptoms. Ask your child's treating team how often thyroid blood tests are needed, because the schedule should be based on the child's findings and health.
Can Johanson-Blizzard syndrome affect growth or blood sugar?
Many children with JBS have growth challenges and may be smaller than their peers, partly related to digestive problems and hormone levels. Diabetes has been reported in a small number of cases, so the care team can decide whether blood sugar screening is appropriate based on symptoms.
When should a child with JBS see a pediatric dentist?
Dental problems such as missing, small, or unusually shaped teeth can occur in JBS. Early consultation with a pediatric dentist can help plan prevention, monitoring, and care as the child's teeth develop.
Does every child with Johanson-Blizzard syndrome have the same symptoms?
No. Johanson-Blizzard syndrome has wide variability, even among siblings with the same genetic mutation. A child may have only some of the recognized features, and the severity can differ from one child to another.

Questions For You

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What craniofacial features, such as nasal shape or scalp defects, do you see in my child, and should we consult a specialist for them?
  2. 2.Has my child been screened for hypothyroidism, and how often should we repeat this test?
  3. 3.Were any internal anomalies, like an imperforate anus or kidney issues, found during the initial newborn exams?
  4. 4.Since dental issues are reported in this condition, when should my child first see a pediatric dentist?
  5. 5.Can you explain how we will monitor my child's growth over the next year?

References

References (11)
  1. 1

    Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

    Abukammas SJ, Abdelgalil A, Shazly MA, et al.

    Cureus 2026; (18(2)):e103579 doi:10.7759/cureus.103579.

    PMID: 41846647
  2. 2

    Johanson-Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients.

    Noli K, Aleysae N, Alzahrani I, et al.

    JPGN reports 2024; (5(2)):140-147 doi:10.1002/jpr3.12057.

    PMID: 38756130
  3. 3

    Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review.

    Isa HM, Khudhair ZA, Abdulla KM, et al.

    Cureus 2024; (16(3)):e55969 doi:10.7759/cureus.55969.

    PMID: 38606259
  4. 4

    Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

    Atik T, Karakoyun M, Sukalo M, et al.

    Gene 2015; (570(1)):153-5.

    PMID: 26149651
  5. 5

    Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

    Wang X, Li F, Zhao W

    Journal of healthcare engineering 2022; (2022()):7414165 doi:10.1155/2022/7414165.

    PMID: 35222891
  6. 6

    Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.

    Sukalo M, Schäflein E, Schanze I, et al.

    Molecular genetics & genomic medicine 2017; (5(6)):774-780 doi:10.1002/mgg3.319.

    PMID: 29178640
  7. 7

    [Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene].

    Fu X, Zhang L, Wei X, et al.

    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022; (39(12)):1379-1384 doi:10.3760/cma.j.cn511374-20211015-00816.

    PMID: 36453963
  8. 8

    Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome.

    Raza AF, Paudel DR, Nisha KV

    Journal of audiology & otology 2022; (26(3)):160-165 doi:10.7874/jao.2021.00444.

    PMID: 34775698
  9. 9

    Johanson-Blizzard syndrome with associated urogenital anomalies.

    Sood A, Jamzadeh A, Chowdhury M, Lakshmanan Y

    BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-225336.

    PMID: 30097546
  10. 10

    Variable Expressivity in Johanson-Blizzard Syndrome: A Case With Severe Manifestations and a Review of the Literature.

    Ktyman H, Chaker D, Ahmad H, et al.

    JGH open : an open access journal of gastroenterology and hepatology 2025; (9(8)):e70236 doi:10.1002/jgh3.70236.

    PMID: 40735003
  11. 11

    A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome.

    Civelek Z, Urganci N, Usta M, Celik M

    JPMA. The Journal of the Pakistan Medical Association 2018; (68(5)):801-803.

    PMID: 29885188

This page describes physical features and multisystem symptoms of Johanson-Blizzard syndrome for informational purposes only and does not constitute medical advice. Your child's pediatrician and specialists should interpret findings and recommend screening or treatment.