Face and body disorders of Rare disease and Syndromes - Medtick

Face and body disorders of Rare disease and Syndromes

What is it?

Many syndromes have small and/or large head sizes please refer to each syndrome individually. while the majority of syndromes have a small head, any condition with a big head, brain diseases and/or brain cancers should always be checked.
Please also make sure one has regular rare disease and syndrome checks for:

Small head

Small head (broad and/or narrow forehead) and flat back skull

Large head (back of head may appear flat)

Large head with bulging forehead

Rounded broad and/or boxy and/or long forehead

Pointed or conical (acrocephalic) head

Low set hairline

Low hairline at the back of the neck (low posterior hairline)

Long face

Widow’s peak (V-shaped hairline)

High arched eyebrows and/or busy eye brows and/or eyebrows that meet/grow together (synophrys)

Low-set, heavy, horizontal eyebrows

Fleshy earlobes, heavy ridges above the eyes (prominent supraorbital ridge)

Short, narrow opening between the upper and lower eyelids; a vertical fold over the inner corner of the eye

Protruding eyes

Drooping (ptosis) of the eyelids, downwardly slanting eyelid folds (palpebral fissures)

Downward slant of the opening between the upper and lower eyelids

Fold of the upper eyelid covering the inner corner of the eye (epicanthal fold)

Upwards slanting eyes

Formation of an upward fold of the inner lower eyelid (epicanthus inversus)

Unusual bluish tint of the whites of the eyes (blue sclerae)

Blue coloured skin under the eyes

Abnormally narrow distance between the upper and lower eyelids (blepharophimosis) and/or an unusually small part of the eye through which light passes (microcornea)

Abnormally large distance between the eyes (hypertelorism)

Closely spaced eyes (hypotelorism)

Deeply set eyes with a narrow nasal bridge

 

Abnormal sideways (lateral) displacement of the inner angles (canthi) of the eyes formed by the junction of the upper and lower eyelids (dystopia canthorum)

  • Waardenburg syndrome – [hearing loss this syndrome can cause eye problems and abnormalities in the pigment (colour) of the hair and eyes]

Bulging ridges above the eyes (prominent superciliary ridges or frontal bossing)

Thick full cheeks

Underdeveloped cheeks

Small nose with nostrils that are flared forward (anteverted nares)

Broad ‘ beaked’ nose

Thin upper lip

Short groove or depression that runs from the nose to the upper lip (short philtrum), a tented upper lip

Abnormally long groove in the upper lip (philtrum)

Bridge of the nose may be narrow and high and/or the tip of the nose may be broad

Slender nose with narrow nostrils

Broad nasal bridge

Single, central front tooth (maxillary incisor)

 

Broad mouth with a large tongue that often protrudes

Short upper lip with an outwardly turned (everted) lower lip, producing a distinctive, “carp-shaped” mouth

Downward displacement or retraction of the tongue (glossoptosis)

Broad nasal tip

Nose is abnormally small and/or the bridge of the nose may be flattened or depressed

Unusually prominent folds between the nose and the lips (nasolabial folds)

Full lips

Prominent upper lip/upper jaw bone

Wide mouth/wide spaced teeth

Downturns corners of the mouth

Everted vermilion of the lower lip, small lower jaw (micrognathia), pointed chin and crowded teeth

Underdeveloped upper jawbone (maxilliary hypoplasia)

Protruding jaw

Low set ears 

Large malformed ears

Broad neck and/or webbed neck

Short neck/receding chin (retrognathia)

Droopy shoulders

 

Sunken chest (pectus excavatum)

Long, thin fingers (arachnodactyly), long arms and/or long legs and/or long toes

Short arms and/or legs

Adducted thumbs (clasped towards the palm)

Tip of the thumb may be clefted or split in two (bifid thumb) and three bones (phalanges) may be found in the thumb instead of two (triphalangeal thumb)

Wide thumbs

Small thumb, broad palm with “hockey-stick” palmar crease/deep single crease (simian crease) on palms of hands

Broad and/or short hands and feet; short and/or stubby fingers (brachydactyly) with permanent fixation of the fifth fingers in a bent position (clinodactyly); abnormally extendible finger joints; and wide flat feet with bulbous toes.

Thumbs and the bones at the ends of the fingers and the great toes (distal phalanges) may be absent (aplastic) or underdeveloped (hypoplastic). Bones may be underdeveloped including the ones between the wrists and the fingers (metacarpals), the bones between the knuckles of the fingers (middle phalanges), the bones of the great toes nearest to the feet (proximal phalanges) or other toes, and/or the bones between the ankles and the toes (metatarsals), absence or underdevelopment of the fingernails and/or toenails and or fingers and toes may be unusually short.

Characteristic digital features may include extra (supernumerary) fingers and/or toes (polydactyly), webbing and/or fusion of the elbows, fingers, knees and/or toes (cutaneous or osseous syndactyly)

Misshapen toes (clinodactyly), a very high arch of the foot (pes cavus), a clubfoot [clubfoot may have the sole of the foot turned inward and upward towards the heel (talipes equinovarus) or towards the toes (talipes calcaneovalgus)] or a twisted foot (metatarsus adductus)

Characteristic abnormal fold of skin extending around the base of the penis (“shawl” scrotum) and/or failure of one or both of the testes to descend into the scrotum (cryptorchidism). In addition, the urinary opening (meatus) may be located on the underside of the penis (hypospadias) and the scrotum may appear clefted or divided (bifid scrotum).

Small testes (males)

Underdeveloped vagina

 

Tall stature 

Short stature (dwarfism)

Club foot/rocking chair (“rocker-bottom feet”) /malformation of the ankle bones (vertical tali)

Large hands and feet

Complications /Information to beware of/General tips:

Medication causing symptoms above (during pregnancy):

  • Retinoids (synthetic form of Vitamin A)
  • Isotretinoin (Isotrex, Isotrexin, Roaccutane)
  • Tretinoin (Retin-A, Alcneomycin Plus, Atralin, Altreno, Avita, Stieva-A, Stieva-A Forte)
  • Drinking Alcohol,
    • Especially in the first three months of pregnancy, increases the risk of miscarriage, premature birth and intrauterine growth restriction.
    • Drinking after the first trimester affects the baby post-natally.
    • Drinking heavily (more than six drinks per day) throughout pregnancy.
    • Foetal alcohol syndrome:
      • Symptoms of baby include:
        • Small head
        • Flat face
        • Small eye opening
        • Epicanthal folds (skin fold of the upper eyelid covering the inner corner of the eye)
        • Short nose
        • Low nasal bridge
        • Smooth Philtrum (Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border)
        • Thin upper lip
        • Underdeveloped jaw
        • Genital malformations
        • Heart (cardiac) defects
        • Infants often experience alcohol addiction withdrawal symptoms , this  may include tremors and/or convulsions, irritability, increased muscle tone, muscle and/or whole body spasms, increased respiratory rate, abdominal swelling (distention) and/or vomiting
        • Joint abnormalities
  • Indomethacin (Non-steroidal Anti-inflammatory drugs NSAID – for pain relief)
  • Minoxidil (for blood pressure and hair loss)

Detailed Information

Please copy and paste any key words from the title: Face and body disorders of Rare disease and Syndromes in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

    Find information and advice on health conditions, symptoms, healthy living, medicines and how to get help (British National Health Service).

  • Medscape

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  • Pharmaceutical Journal

    The Pharmaceutical Journal covers analysis, features, opinion, learning and careers articles, providing insight and knowledge about drugs, pharmacy practice, medicines use and healthcare policy in the context of the pharmacy profession and pharmaceutical science.

  • Healthline

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  • ChatGPT

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  • Medical News Today

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  • WebMD

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  • Cleveland Clinic

    Pushing the Standards of care.

  • Mayo Clinic

    No.1 Hospital in the Nation (America)

  • Drugs.com

    Know more. Be sure.

  • National Organisation of Rare Diseases

    NORD is dedicated to supporting education, elevating care, advancing research, and driving policy for rare diseases.

  • Verywell Health

    Know more. Fell better.

  • Fit for Travel

    Information on how to stay safe and healthy abroad.

  • DR Axe

    Health and fitness news. Recipes, Natural Remedies