growth Genitourinary Internal Genitalia Male: cryptorchidism Head And Neck Face: long philtrum triangular face broad philtrum Neurologic Central Nervous System: poor speech mental retardation, severe lack of speech seizures, early onset Head And Neck [malacards.org]

Apart from the craniofacial characteristics, poor growth and feeding, seizures, absent or delayed speech, variable ID, and behavioral disturbances (ex. decreased inhibitions, self-aggression, compulsive behavior, and sensory sensitivities in some patents [bmcmedgenomics.biomedcentral.com]

[…] body height Small stature [ more ] 0004322 Unilateral narrow palpebral fissure 0007946 Widely spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 Percent of people who have these symptoms is not available through HPO Absent eyebrow Failure [rarediseases.info.nih.gov]

Homepage Rare diseases Search Search for a rare disease Intellectual disability-sparse hair-brachydactyly syndrome Disease definition Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of [orpha.net]

There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. [ncbi.nlm.nih.gov]

"An unusual syndrome with mental retardation and sparse hair". Clin. Dysmorphol. 2 (3): 232–6. doi : 10.1097/00019605-199307000-00007. PMID 8287185. Morin G, Villemain L, Baumann C, Mathieu M, Blanc N, Verloes A (October 2003). [ipfs.io]

80%-99% of people have these symptoms Abnormality of the metacarpal bones Abnormality of the long bone of hand 0001163 Alopecia Hair loss 0001596 Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 [rarediseases.info.nih.gov]

Alopecia Contractures Dwarfism Mental Retardation Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental [rgd.mcw.edu]

She has myopia, and her hearing is normal.Her hair, which had always been sparse but with a normal distri-bution, had become more sparse and from 20 years onwards she hadcomplete alopecia, except for a small area over the temples. [documents.tips]

wrinkled skin 0007392 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Long eyelashes Increased length of eyelashes Unusually long eyelashes [ more ] 0000527 [rarediseases.info.nih.gov]

wrinkled skin 58 31 frequent (33%) Frequent (79-30%) HP:0007392 40 broad distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009836 41 generalized non-motor (absence) seizure 31 frequent (33%) HP:0002121 42 epileptic spasm 31 frequent [malacards.org]

She had mild coarse face, some sparse hair, low frontal hairline, down slant palpebral fissures with sagging periorbital skin, epicanthic folds, broad eyebrows, and long eyelashes. [hindawi.com]

nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 5%-29% of people have these symptoms Abnormality of cardiovascular system morphology 0030680 Abnormality of epiphysis morphology Abnormal shape of end part of bone 0005930 Accelerated [rarediseases.info.nih.gov]

Minor anomalies were a triangular face, thin, sparse and soft hair, dry and grayish skin with periorbital wrinkling and flat and sagging malar regions, long eyelashes, a narrow nasal bridge with a relatively bulbous nasal tip and a prominent columella [ncbi.nlm.nih.gov]

Case Reports Patient 1 Patient 1 (fig. 1A–F ), the third child of healthy, non-consanguineous parents, was born after an uneventful pregnancy at week 38 by cesarean section. [ncbi.nlm.nih.gov]

Case Reports Patient 1 Patient 1 (fig. 1 A–F), the third child of healthy, non-consanguineous parents, was born after an uneventful pregnancy at week 38 by cesarean section. [karger.com]

long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short phalanx of finger Short finger bones 0009803 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Thick lower lip vermilion [rarediseases.info.nih.gov]