Affected males suffer from weak muscle tone, changes in the structure of the brain, moderate to severe delay in development, seizures, distinctive facial features, and other birth defects. [conradihunermannsyndrome.weebly.com]

The disorder recognized by Hünermann also included micromelia, a saddle nose deformity, flexion contractures, cataracts, and a dermopathy. [mhmedical.com]

The severe form is characterised by marked congenital rhizomelic dwarfism, flexion contractures of large joints, small chest and saddle nose deformity. Asymmetrical limb shortening and kyphoscoliosis become prominent with age. [ijri.org]

This is the only manifestation in most patients with HIDS, and, in the case of classical mevalonic aciduria, is part of a severe multisystemic disease, including malformations, severe failure to thrive and neurological abnormalities. [thieme-connect.com]

All affected infants have severe failure to thrive, mental retardation, joint contractures, and cataracts. [mhmedical.com]

[…] to Thrive Fairbank Disease - Multiple Epiphyseal Dysplasia Familial Dysautonomia Fanconi Anemia Fetal Alcohol Syndrome and Support Fetal Anti-Convulsant Syndrome Fetal Veapkote Syndrome / Fetal Balproate Acid Syndrome Froelich's Syndrome Gerneralized [magicfoundation.org]

Affected infants may fail to grow and gain weight at the rate expected for age and gender (failure to thrive). Growth deficiencies may ultimately result in a final adult height that is below normal (short stature). [rarediseases.org]

Scalp involvement results in patchy, scarring alopecia. [escholarship.org]

Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. [jhu.pure.elsevier.com]

When examined, the mother had linear alopecia, said to have been present from birth. She also had ichthyosis during childhood and a difference in leg length for which she had undergone several orthopaedic corrections. [ntvg.nl]

A 5-year-old girl presented for evaluation of ill-defined patches of cicatricial alopecia. In addition, subtle follicular atrophoderma, esotropia, craniofacial asymmetry and short stature were noted. [ncbi.nlm.nih.gov]

Other cutaneous findings are follicular atrophoderma and patchy-patterned alopecia. [synapse.koreamed.org]

Management of the patient’s dry, scaly skin has included daily application of ammonium lactate 12 percent cream, ceramide-enriched emollients, and petrolatum ointment. [escholarship.org]

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6 xp, group f xeroderma pigmentosum vi Related symptoms: Intellectual disability Short stature Hearing impairment Microcephaly Scoliosis SOURCES: MESH OMIM MENDELIAN More info about [mendelian.co]

impairment heart defects mental retardation mid-face abnormalities kidney malformations prematurity punctate vertebrae (dotted appearance in x rays) short and in-curving fingers shortened limbs Diagnosis For parents who know that they are carriers of [encyclopedia.com]

Synopsis stippled epiphyseal calcification (epiphyseal stippling) dwarfism flat facies depressed nasal bridge cataract short neck flexion contracture foot deformation ichtyosiform dermatitis Clinical types Greenberg dysplasia dappled diaphysis dysplasia [humpath.com]

The clinical features in the milder form are nonspecific like mongoloid face, snub nose, slanting of the eyes, short neck and trunk, cataract and mild skeletal deformities. Dwarfism is not severe. [ijri.org]

Figure 1 Clinical photo taken at the age of 2 months showed short neck, and predominantly rhizomelic shortening of the upper and lower limbs. Note left femur more severely affected than the right. [hkjpaed.org]

Such features have included abnormal calcifications and potential narrowing (stenosis) of the windpipe (trachea) and/or the larynx, which connects the throat and the trachea; an unusually short neck; abnormalities of the nails; various structural malformations [rarediseases.org]

Congenital (sectoral) cataract, midface hypoplasia, wide/flat nose, hypothelorism and structural brain anomalies with mental retardation can be present. Sometimes there is a linear alopecia. [ntvg.nl]

Genitourinary lesions commonly present as hydronephrosis, cryptorchidism and clitoromegaly. Hydronephrosis can be diagnosed by renal ultrasound. Urology or gynecology referral should be made if any of these symptoms are found. [dermatologyadvisor.com]

Since isotretinoin is associated with severe systemic side effects, eg, teratogenicity, hepatic dysfunction, dyslipidemia, visual changes, pseudotumor cerebri, etc, the risk/benefit ratio should be carefully weighed before initiating treatment. [dermatologyadvisor.com]