Minor physical anomalies among people with disabilities
What is this tree that has hounds barking at the base of it?
The editors of ADDitude: ADHD Science & Strategies, published an article entitled “Double Jointed with ADHD? It’s Not a Coincidence” on 11 July 2025. The article presented a brief primer on hyper-mobility’s relation to other problems (“comorbidities”) and drew a line to potential benefits of treatment for hyper-mobility and ADHD.1
The article got me thinking about a topic connecting neurology and disabilities, minor physical anomalies, that I learned a lot about from my colleagues Jim Krouse and Jim Kauffman. In a 1982 paper they provided an introduction to the topic in which they covered history, theory, measurement, and behavioral connections of minor physical anomalies.2
Authorities have been studying minor physical anomalies and children with disabilities for decades. They have examined relationships between minor physical anomalies and ADHD (Rapoport & Quinn, 1975). autism (Tripi et al., 2008), learning disabilities and emotional and behavioral disorders (Steg & Rapoport, 1975), schizophrenia (Compton et al., 2011), and exceptionality in general (Hilsheimer & Kurko, 1979).
The reasoning behind studying minor physical anomalies is that people think they occur (“are laid down”) at the same time as certain neurodevelopment or structural features are occurring. During embryological development, certain features occur in sequence, and it’s possible that the minor physical anomalies might document that time line. Minor physical anomalies arise from disruptions (genetic or environmental) during fetal development. Therefore, the minor physical anomalies might be markers that tell us when aspects of neural development that underlie disorders were disrupted during development.
Might the minor physical anomalies discriminate between kids who have disabilities and those who do nave any? Could differences in the minor physical anomalies of kids discriminate between kids on the spectrum who have and those on the spectrum who do not have intellectual and developmental disabilities? Could it be that differences in kids who have ADD with hyperactivity and those who have ADD without hyperactivity are related to minor physical anomalies? Might minor physical anomalies point to what went wrong in neural development?
Some studies
The interest in minor physical anomalies is longstanding, culturally diverse, and has examined many aspects of disability.
From the Karolinska Institute, Professor Manouilenko and colleagues (2014) reported that their examination of minor physical anomalies among adults with autism showed a positive correlation. They found higher scores (more anomalies) in the group of participants with autism than for controls, especially in the craniofacial areas. The authors suggested that the results had descriptive value, but they provided no recommendations beyond evaluation.
From the University of Pécs, Varga et al. (2021) reported a meta-analysis of research about minor physical anomalies and bi-polar disorder. They found that anomalies were more common among individuals with bi-polar disorder, but the studies were generally not high-quality research.
From the University of Pécs, Professor Tényi and colleagues (2024) examined studies using a scale of minor physical anomalies that they argue is better than former measures. Individuals with schizophrenia, bipolar disorder, Tourette syndrome, autism and some epilepsies were more likely to have minor physical anomalies on their heads and mouths than controls.
What are minor physical anomalies
So, what are these minor physical anomalies? There are close to 300 items that have been considering minor physical anomalies. Joint hyper-mobility, mentioned in the ADDitude article, is just one.
A list
This is an extensive list reformatted from “additional file #2” from Myers et al. (2017). The researchers reduced this list to a briefer on (still with many items on it) in there study. WARNING: Do not try this at home. Having one or more of these features should not be interpreted as indicating anything
Body Proportions: - Overweight, - Underweight, - Assymetry, - Hemihypertrophy, - Hemihypotrophy, - Tall stature, - Short stature, - Rhizomelic (short upper arms and legs), - Mesomelic (short forearms and legs), - Acromelic (small hands and feet), - Short trunk, - Proportionately short stature
Voice: - Squeaky voice, - Hoarse voice, - Nasal voice
Joints: - Hypermobility, - Dislocation, - Contractures, - Deformities
Head Shape; - Macrocephaly, - Microcephaly, - Wide sutures, - Large fontanelles, - Craniosynostosis, - Prominent occiput, - Flat occiput
Forehead: - High forehead, - Low forehead, - Bulging forehead, - Sloping forehead, - Broad forehead, - Short forehead = low forehead, - Sunken temples
Hair or Hairline: - High anterior and posterior hairline, - Low anterior and posterior hairline, - Three-peak hairline, - Cowlick, - Widow's Peak, - Thick hair, - Thin hair, - Rough hair, - Bright hair, - Dark hair, - Curly hair, - Straight hair, - Pigment anomalies in hair, - Hirsutism
Eyebrow or Eyelashes: - Long eyelashes, - Short eyelashes, - Absent eyelashes, - Double eyelashes, - High placed eyebrow, - Low placed eyebrow, - Straight or horizontal eyebrow, - Highly arched eyebrow, - Underdeveloped eyebrow- laterally, - Underdeveloped eyebrow- medially, - Missing eyebrow, - Synophrys
Nails: - Dysplastic nails, - Other abberant nail form
Skin: - Thick skin, - Thin skin, - Light skin, - Dark skin, - Dry skin, - Oily skin, - Velvety skin, - Aged skin, - Excess skin, - Tight skin, - Abnormal fat distribution, - Café au lait spots, - Hypopigmentation, - Nevi, - Hemangioma, - Tumor, - Blisters, - Papules, - Abnormal mamillary number, - Abnormal mamillary placement
Facial Form: - Round face, - Square face, - Triangular face
Neck: - Broad neck, - Short neck, - Redundant nuchal skin, - Neck webbing
Eyes: - Visual Impairment, - Type of vision impairment, - Microphtalmia, - Missing eyeballs or Anophthalmia, - Iris abnormalities, - Prominent eyes, - Deeply set eyes, - Hypertelorism, - Hypotelorism, - Short palpebral fissure, - Long palpebral fissure, - Downslanted palpebral fissure, - Upslanted palpebral fissure, - Epicanthus, - Telecanthus, - Ptosis, - Coloboma, - Telangiectasias, - Abnormal tear production, - Abnormality in retina, - Lens dislocation, - Retinal detachment, - Glaucoma, - Cataract
Mouth Region - Wide mouth, - Narrow mouth, - Tented mouth, - Thick lip, - Thin lip, - Cleft lip, - Other anomalies- e.g., dimples, ridges, or deviations of frenulum, - High palate, - Angled palate, - Broad uvula, - Bifid or cleft uvula, - Thick gingiva, - Large tongue, - Furrowed tongue, - Malformed tongue, - Micrognathia, - Prognathia
Philtrum: - Long philtrum, - Short philtrum, - Smooth philtrum, - Deep philtrum
Teeth: - Dental crowding, - Widely spaced teeth, - Oligodontia, - Macrodontia, - Microdontia, - Abnormal tooth shape, - Enamel defect, - Hypodontia, - Anodontia, - Additional teeth, - Delayed or advanced eruption, - Other dental abnormalities
Ears: - Microtia, - Long ear, - Dysplastic ears, - Low-set ear, - Posteriorly rotated ear, - Overfolded helix, - Thick helices, - Thin helices, - Abnormal earlobe form, - Preauricular tags or pits, - Hearing loss, - Hearing loss type
Nose: - Small nose, - Prominent Nose, - Long nose, - Short nose, - Flat nose, - Hooked nose, - Upturned tip of the nose, - High nasal bridge, - Low nasal bridge, - Broad nasal bridge, - Thin nasal bridge, - Broad nasal tip, - Narrow nasal tip, - Short columella, - Low hanging columella, - Narrow naris, - Anteverted nares, - Choanal atresia, - Anosmia
Shoulders and Arms: - Abnormal shoulders, - Abnormal upper arm, - Abnormal forearm
Hands: - Proximally placed thumbs, - Sublaxed thumbs, - Broad thumbs, - Missing thumbs, - Small thumbs, - Triphalangeal thumbs, - Clinodactyly, - Polydactyly, - Syndactyly, - Ectrodactyly, - Slender or narrow fingers, - Short fingers, - Single transverse palmar crease, - Fetal fingertip pads, - Edema, - Abnormal patterns or groves in palms
Hips and Bones: - Abnormal hips, - Abnormal thighs, - Abnormal leg
Feet: - Short foot, - Long foot, - Narrow foot, - Broad foot, - Polydactyly, - Syndactyly, - Ectrodactyly, - Slender or long toes, - Short toes, - Prominent heel, - Broad toes, - Pes planus, - Sandal gap, - Edema
Back: - Scoliosis, - Kyphosis
Abdomen: - Umbilical hernia, - Inguinal hernia, - Rectus diastasis, Outer genitalia, - Cryptorchidism, - Hypospadias, - Micropenis, - Bifid scrotum, - Shawled scrotum, - Small testes, - Large tests
Other malformations: [not listed]
Measurement
In their section on measurement, Krouse and Kauffman noted some of the odd metrics used to assess minor physical anomalies. In addition to an extensive discussion about how different researchers assigned more importance to some minor physical anomalies than to others (i.e., the used “weighted scores”), there are logical anomalies. Here’s an illustration of measurement concerns:
Abnormal head circumference is defined by Waldrop and Halverson (1971, 1972) as head size at least 1 SD discrepant from the mean value
Abnormal head circumference is defined by Waldrop and Halverson (1971, 1972) as head size at least 1 SD discrepant from the mean value provided by established norms. This definition, and the discussion of the weighting procedure originally used by Waldrop et al. (1969) includes both abnormally large and abnormally small head size. However, other studies (e.g., Firestone, Peters, Rivier, & Knights, 1978; Steg & Rapoport, 1975) explicitly state that only abnormally large head circumference was considered anomalous. It is not clear if abnormally small head circumference was considered an MPA among the majority of studies reviewed.
It’s important to realize that researchers rarely place much emphasis on any one particular minor physical anomaly. Instead, they may use a count, so scores of more minor physical anomalies can be correlated with scores on other measures (e.g., severity checklists).
Still, as Krouse and Kauffman noted, there are a host of measurement concerns that ought to be considered.
Are we considering microcephaly and macrocephaly minor physical anomalies? Those conditions both have serious and well-documented consequences and causes.
Head circumference…measured how? Does it matter where you put the tape measure around the head? Uhhm… yes.
Big or little head, according to what standard? I think nearly all of us understand the concept of “standard deviation,” And I understand how one could adjust the SD (and, of course, the mean used to establish it) for age so that younger kids don’t get a deviant score because they have smaller heads. But, how do we know what that mean is? Well, as Krouse and Kauffman noted, in most of the studies, the sample used to establish the means and standard deviations was…yeah, right…composed of kids from the northern parts of Europe.
So much of the catalog of minor physical anomalies are just variations on “normal.”
Thoughts
From what I’ve read, most of the careful research has revealed little or no guidance in regard to treatment. Many reports concur with the conclusion of French researcher, Fourneret and Poissant (2016) who summarized that “Despite a major research effort, the extent and diversity of these comorbid events still raise many questions about the exact nature of their pathogenetic condition … and consequently the best way to support them.”3
In my view, this topic of research is a fascinating example of human curiosity run amok. It’s as if people see something and think that what they see has deeper meaning. Then they spin up some deeper meaning and set about proving it. Now, that’s a classic research strategy: Generate a hypothesis and then set out to prove it true (or false). But if the data don’t comport with the hypothesis—if the answer comes back “false”—well, try again…and again. Shoot, if you measure enough “things,” some of the measures are going to correlate, and correlate at a significant level.
The disability literature is rife with these sorts of quests for biophysical and psychological causes. I think we ought to return to this topic with a couple of other illustrations.
For a fascinating take down on the broader topic, grab a copy of Stephen Jay Gould’s The Mismeasure of Man. It’s an oldie, but it’s a goodie.
Stay skeptical, Dear Readers.
References
Compton, M. T., Chan, R. C., Walker, E. F., & Buckley, P. F. (2011). Minor physical anomalies: Potentially informative vestiges of fetal developmental disruptions in schizophrenia. International Journal of Developmental Neuroscience, 29(3), 245-250.
D'silva, S., & Jayaprakash, P. (2025). Minor physical anomalies in patients with bipolar disorder-A cross-sectional study done in a tertiary psychiatric institute. Asian Journal of Psychiatry, 109, 104562. https://doi.org/10.1016/j.ajp.2025.104562
Fourneret, P., & Poissant, H. (2016). Troubles d’apprentissage dans le trouble de déficit de l’attention avec ou sans hyperactivité : quelle est la nature du lien ? [Learning disorders in ADHD: How are they related?]. Archives de Pediatrie : Organe Officiel de la Societe Francaise de Pediatrie, 23(12), 1276–1283. https://doi.org/10.1016/j.arcped.2016.09.006
Hilsheimer, G. V., & Kurko, V. (1979). Minor physical anomalies in exceptional children. Journal of Learning Disabilities, 12(7), 462-469.
Krouse, J. P., & Kauffman, J. M. (1982). Minor physical anomalies in exceptional children: a review and critique of research. Journal of Abnormal Child Psychology, 10(2), 247–264. https://doi.org/10.1007/BF00915944
Manouilenko, I., Eriksson, J. M., Humble, M. B., & Bejerot, S. (2014). Minor physical anomalies in adults with autism spectrum disorder and healthy controls. Autism Rresearch and Treatment, 2014(1), 743482. https://onlinelibrary.wiley.com/doi/pdf/10.1155/2014/743482
Rapoport, J. L., & Quinn, P. O. (1975). Minor physical anomalies (stigmata) and early developmental deviation: A major biologic subgroup of “hyperactive children”. International Journal of Mental Health, 4(1-2), 29-44.
Steg, J. P., & Rapoport, J. L. (1975). Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children. Journal of Autism and Childhood Schizophrenia, 5(4), 299-307.
Tényi, D., Csábi, G., Janszky, J., Herold, R., & Tényi, T. (2024). 25 years into research with the Méhes Scale, a comprehensive scale of modern dysmorphology. Frontiers in Psychiatry, 15, 1479156. https://doi.org/10.3389/fpsyt.2024.1479156
Tripi, G., Roux, S., Canziani, T., Brilhault, F. B., Barthélémy, C., & Canziani, F. (2008). Minor physical anomalies in children with autism spectrum disorder. Early Human Development, 84(4), 217-223.
Varga, E., Hajnal, A., Soós, A., Hegyi, P., Kovács, D., Farkas, N., Szebényi, J., Mikó, A., Tényi, T., & Herold, R. (2021). Minor physical anomalies in bipolar disorder: A meta-A\analysis. Frontiers in Psychiatry, 12, 598734. https://doi.org/10.3389/fpsyt.2021.598734
Footnote
The bulk of the article in ADDitude is composed of comments by people reporting their own personal experiences with hyper mobility and their own problems.
Rereading the Krouse and Kauffman (1982) paper for the first time since the 1980s I was struck by the high quality of the scholarship and reporting in it. They did this research back in the days when one had to many hefty books to search for sources of relevant literature and then ferret our the actual studies in other physical copies of the original journals. And, many of the library spaces did not have air conditioning, so conducting literature searches during the summer, prime time for such work because one didn’t have (as many) classes in that season required many perspiration-covered hours in cramped library stacks.
I’m quoting from the abstract here. The article is in French; I have a hard enough time reading English and virtually no competence in reading French. If there are any Dear Readers who are willing to help translate this article, please let me know.