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)
- Achondrogenesis
- Agenesis of corpus callosum
- Alpha-mannosidosis
- Acrocephalopolysyndactyly disorders (Apert syndrome, Chotzen syndrome, Carpenter syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome)
- Bachmann-Bupp syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Canavan disease
- Chromosome 5, Trisomy 5p
- Coffin-Siris syndrome
- Cohen-Gibson Syndrome
- Costello syndrome [loose skin (cutis laxa) on the neck, palms, fingers, and soles, skin may appear wrinkled and thickened, dry hardened patches of skin (hyperkeratosis) with unusually deep creases on the palms and soles]
- Fountain syndrome (abnormal swelling of cheeks and lips)
- Hypomelanosis of Ito (develop areas that lack skin colour)
- Imagawa-Matsumoto syndrome
- Megalencephaly-capillary malformation syndrome
- Multiple sulfatase deficiency
- Neurofibromatosis 1 (von Recklinghausen’s disease)
- Refsum Disease (Zellweger spectrum disorders)
- Shashi-Pena syndrome
- SYNCRIP-related neurodevelopmental disorder
- Tatton Brown Rahman Syndrome
- Weaver Syndrome
- Winchester syndrome
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)
- Aarskog syndrome
- 48-XXYY Syndrome
- Acrodysostosis
- Acrocallosal syndrome
- Acrocephalopolysyndactyly disorders (Apert syndrome, Chotzen syndrome, Carpenter syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome)
- ADNP syndrome (Helsmoortel-Van Der Aa syndrome)
- AIDS dysmorphic syndrome
- ATR-16 syndrome
- Alagille syndrome
- ASXL3-related disorder (Bainbridge-Ropers syndrome)
- Andersen-Tawil syndrome
- Axenfeld-Rieger syndrome
- Bardet-Biedl Syndrome
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Brown syndrome
- Cardiofaciocutaneous syndrome
- Cat eye syndrome
- Catel-Manzke syndrome (unusual fingers and toes)
- Chromosome 10, distal trisomy 10q and other chromosome deletion disorders
- Cohen-Gibson Syndrome
- Craniofrontonasal dysplasia
- Craniometaphyseal dysplasia
- Cri du chat syndrome (cry that resembles the mewing of a cat)
- De Barsy syndrome (eyes, loose saggy skin, weak muscles)
- Donohue syndrome (Leprechaunism)
- Dubowitz syndrome (narrow or triangle-shaped face with a high or sloping forehead, eczema, vision problems)
- Encephaloceles
- ESCO2 spectrum disorder (Robert syndrome)
- Fanconi anaemia
- FG syndrome type 1
- Filippi syndrome
- Freeman-Sheldon syndrome (whistling face syndrome)
- Frontofacionasal dysplasia
- Frontonasal dysplasia
- Fryns syndrome
- Goltz syndrome
- Greig cephalopolysyndactyly syndrome
- Hypomelanosis of Ito (develop areas that lack skin colour)
- Imagawa-Matsumoto syndrome
- Jansen type metaphyseal chondrodysplasia
- Joubert syndrome
- Juberg-Marsidi syndrome
- Juvenile ossifying fibroma
- KBG syndrome
- Kleefstra syndrome (arched or connected eyebrows)
- Lacrimo-auriculo-dento-digital (LADD) syndrome
- Larsen syndrome (prone to dislocation of elbows , hips and knees)
- Lissencephaly type 1 (Miller-Dieker syndrome and Norman-Roberts syndrome)
- Loeys-Dietz syndrome
- Marshall syndrome
- Megalocornea-intellectual disability syndrome
- Melnick-Needles syndrome
- Mevalonate kinase deficiency
- MN1 C-terminal truncation syndrome
- Molybdenum cofactor deficiency
- Mowat-Wilson syndrome
- Muenke syndrome
- Noonan syndrome
- Neu-Laxova syndrome
- Nevoid basal cell carcinoma syndrome (Gorlin syndrome or Gorlin-Goltz syndrome)
- Oral-facial-digital syndrome
- Orocraniodigital syndrome
- Osteopetrosis
- Otopalatodigital syndromes type I and II
- Pallister-Killian mosaic syndrome
- Pallister W syndrome
- Penta X syndrome
- Potter syndrome (Underdeveloped lungs and Kidney failure)
- Refsum Disease (Zellweger spectrum disorders)
- Robinow syndrome
- Schinzel Giedion syndrome
- Shashi-Pena syndrome
- Shprintzen Goldberg syndrome
- Sjögren-Larsson syndrome
- Smith-Magenis syndrome (deep set eyes)
- Smith-Kingsmore syndrome
- Sotos syndrome
- Spondyloepiphyseal dysplasia congenita
- Tetrasomy 9p
- TLK2-related neurodevelopmental disorder
- Treacher Collins syndrome
- Trichorhinophalangeal syndrome type II (Langer-Giedion syndrome)
- Trisomy 13 Syndrome
- Trisomy-18 (Edwards syndrome)
- Turner type X-linked syndromic intellectual developmental disorder
- Waardenburg syndrome – [hearing loss this syndrome can cause eye problems and abnormalities in the pigment (colour) of the hair and eyes]
- Weaver Syndrome
- Wiedemann-Steiner syndrome
- Wolf-Hirschhorn syndrome
- X-linked Opitz G/BBB syndrome
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
- Acrocephalopolysyndactyly disorders (Apert syndrome, Chotzen syndrome, Carpenter syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome)
- Acrodysostosis
- AIDS dysmorphic syndrome
- Alpha-mannosidosis
- Antley-Bixler syndrome
- Bardet-Biedl Syndrome
- Beta thalassemia (if untreated)
- Binder type nasomaxillary dysplasia
- Cardiofaciocutaneous syndrome
- Cat eye syndrome
- Chromosome 6 Ring
- Chromosome 7, Partial Monosomy 7p
- Chromosome 9, Partial Monosomy 9p
- Chromosome 10, distal trisomy 10q and other chromosome deletion disorders
- Conradi-Hünermann syndrome (hardened spots of calcium on the “growing portion” or heads of the long bones)
- Cornelia de Lange syndrome
- Costello syndrome (wide nostrils)
- Donohue syndrome (Leprechaunism)
- Frontofacionasal dysplasia
- Frontonasal dysplasia (tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts)
- Gorlin-Chaudhry-Moss syndrome
- Hypohidrotic ectodermal dysplasia
- Juberg-Marsidi syndrome
- Kabuki syndrome
- Kleefstra syndrome
- Larsen syndrome (prone to dislocation of elbows , hips and knees)
- Marden-Walker syndrome
- Marshall syndrome
- Maxillofacial dysostosis
- MEF2C deficiency
- Molybdenum cofactor deficiency
- Mosaic trisomy 22
- Noonan syndrome [with a wide base, and a rounded (bulbous) nasal tip]
- Homozygous OSMED
- Opitz trigonocephaly syndrome
- Otopalatodigital syndromes type I and II
- Pallister W syndrome
- Pallister-Hall syndrome
- Penta X syndrome
- Potter syndrome (Underdeveloped lungs and Kidney failure)
- Refsum Disease (Zellweger spectrum disorders)
- Setleis syndrome [tip of the nose may appear abnormally rounded (bulbous)]
- Sialidosis (cherry red spots in the eyes)
- Smith-Magenis syndrome (short, full-tipped nose)
- Smith-Kingsmore syndrome
- Stickler syndrome
- Trisomy 13 Syndrome
- Turner type X-linked syndromic intellectual developmental disorder
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
- Ablepharon-macrostomia syndrome
- Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome
- Alagille syndrome
- Andersen-Tawil syndrome
- ASXL3-related disorder (Bainbridge-Ropers syndrome)
- Axenfeld-Rieger syndrome
- Bowen Hutterite syndrome
- Campomelic syndrome
- Cat eye syndrome
- Catel-Manzke syndrome (unusual fingers and toes)
- Cerebrocostomandibular syndrome
- CHARGE syndrome
- Chromosome 4, Partial Trisomy Distal 4q
- Chromosome 10, distal trisomy 10q and other chromosome deletion disorders
- Cornelia de Lange syndrome
- Cri du chat syndrome (cry that resembles the mewing of a cat)
- Diastrophic dysplasia (disastrophic dwarfism)
- Dubowitz syndrome (narrow or triangle-shaped face with a high or sloping forehead, eczema, vision problems)
- ESCO2 spectrum disorder (Robert syndrome)
- Femoral facial syndrome (abnormal and/or missing hip bone)
- Freeman-Sheldon syndrome (whistling face syndrome) [small mouth and pursed lips, “H” or “V” shaped chin dimple and very obvious crease from the nostril to the corners of the mouth (nasolabial creases)]
- Fryns syndrome
- Galloway-Mowat syndrome
- Goltz syndrome
- Hallermann-Streiff syndrome
- Hanhart syndrome [short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes (hypodactylia); malformed arms and/or legs (peromelia)]
- Homozygous OSMED
- Imagawa-Matsumoto syndrome
- Jansen type metaphyseal chondrodysplasia
- Johanson-Blizzard syndrome
- Joubert syndrome
- Kabuki syndrome
- KAT6A syndrome
- KAT6B-related disorders
- KCNK9 imprinting syndrome
- Kniest dysplasia (Kniest-like dysplasia)
- Lenz microphthalmia syndrome (small eyes)
- Lissencephaly type 1 (Miller-Dieker syndrome and Norman-Roberts syndrome)
- Malan syndrome
- Mandibuloacral dysplasia
- Marden-Walker syndrome
- Marfan syndrome
- Meckel-Gruber syndrome
- MEF2C deficiency
- Megalocornea-intellectual disability syndrome
- Meier-Gorlin syndrome
- Melnick-Needles syndrome
- Miller syndrome
- Moebius syndrome (eyes do not move from side-to-side, facial paralysis or weakness affecting at least one but usually both sides of the face)
- Mosaic trisomy 9
- Mowat-Wilson syndrome
- Muenke syndrome
- Multiple sulfatase deficiency
- Nager syndrome
- Noonan syndrome
- Opitz trigonocephaly syndrome
- Oral-facial-digital syndrome
- Otopalatodigital syndromes type I and II
- Penta X syndrome
- Pierre Robin sequence [displacement of the tongue toward the back of the oral cavity (glossoptosis)]
- Progeria
- Pterygium syndrome Multiple
- Refsum Disease (Zellweger spectrum disorders)
- Ring chromosome 4
- Robinow syndrome
- Russell-Silver syndrome
- Seckel syndrome
- SHORT syndrome (triangular face, dimple on chin)
- Shprintzen Goldberg syndrome
- Smith-Magenis syndrome
- Smith-Lemli-Opitz syndrome
- Sotos syndrome
- Spondyloepiphyseal dysplasia, Kondo-Fu type
- Stickler syndrome
- Stuve Wiedemann syndrome
- Three M syndrome
- Thrombocytopenia-absent radius syndrome
- Treacher Collins syndrome
- Trichorhinophalangeal syndrome type I
- Trichorhinophalangeal syndrome type II (Langer-Giedion syndrome)
- Trisomy 13 Syndrome
- Turner syndrome
- Turner type X-linked syndromic intellectual developmental disorder
- WAGR syndrome/11p deletion syndrome
- Weaver Syndrome
- Yunis-Varon syndrome
- Weill Marchesani syndrome [short stature, broad head (brachycephaly) and joint stiffness]
- Williams-Beuren syndrome
- Wolf-Hirschhorn syndrome
Underdeveloped upper jawbone (maxilliary hypoplasia)
Protruding jaw
Low set ears
- Aarskog syndrome
- Acrodysostosis
- Ablepharon-macrostomia syndrome
- Alagille syndrome
- Andersen-Tawil syndrome
- Antley-Bixler syndrome
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Cardiofaciocutaneous syndrome
- Catel-Manzke syndrome (unusual fingers and toes)
- DiGeorge syndrome (ears are of different size to each other and/or thick outer rim ears)
- Chromosome 4, Monosomy Distal 4q
- Chromosome 4q deletion (ears not formed well)
- Chromosome 5, Trisomy 5p [fewer creases of the ear (simple helix) or the ear may have indented areas (crumpled helix)]
- Chromosome 7, Partial Monosomy 7p
- Chromosome 9, Tetrasomy 9p
- Chromosome 10, distal trisomy 10q and other chromosome deletion disorders
- Cornelia de Lange syndrome
- Costello syndrome
- Craniofrontonasal dysplasia
- Cri du chat syndrome (cry that resembles the mewing of a cat)
- Deoxyhypusine synthase
- Donohue syndrome (Leprechaunism)
- Dubowitz syndrome (narrow or triangle-shaped face with a high or sloping forehead, eczema, vision problems)
- ESCO2 spectrum disorder (Robert syndrome)
- Femoral facial syndrome (abnormal and/or missing hip bone)
- Fryns syndrome
- Hereditary neuralgic amyotrophy (recurrent episodes of severe pain in the shoulder and arm)
- Joubert syndrome
- KAT6A syndrome
- KAT6B-related disorders
- Lacrimo-auriculo-dento-digital (LADD) syndrome
- Marden-Walker syndrome [small projecting piece of tissue on the front of the outer ear (preauricular tag)]
- Meckel-Gruber syndrome
- MEF2C deficiency
- Meier-Gorlin syndrome
- MN1 C-terminal truncation syndrome
- Mosaic trisomy 9 [outgrowths of skin and cartilage on or before the ears (preauricular tags)]
- Noonan syndrome
- Neu-Laxova syndrome
- Oral-facial-digital syndrome [OFDS type IV (Baraister-Burn syndrome)]
- Otopalatodigital syndromes type I and II
- Potter syndrome (Underdeveloped lungs and Kidney failure)
- Progeria
- Pterygium syndrome Multiple
- Robinow syndrome
- Schinzel Giedion syndrome
- Schwartz-Jampel syndrome
- Shashi-Pena syndrome
- Shprintzen Goldberg syndrome
- SYNCRIP-related neurodevelopmental disorder
- TLK2-related neurodevelopmental disorder
- Townes-Brocks syndrome [A closed anal opening (imperforate anus), small ears that usually have a folded rim of skin and cartilage around the outer ear, and differences in the structures of the thumbs]
- Trisomy 13 Syndrome
- Turner syndrome
- Turner type X-linked syndromic intellectual developmental disorder
- Walker-Warburg syndrome
- Wolf-Hirschhorn syndrome
Large malformed ears
- Chromosome 3, Monosomy 3p
- Chromosome 4, Trisomy 4p
- Cockayne Syndrome
- Cohen syndrome
- Conradi-Hünermann syndrome (hardened spots of calcium on the “growing portion” or heads of the long bones)
- Ring chromosome 22 (long eye lashes)
- De Barsy syndrome (eyes, loose saggy skin, weak muscles)
- Donohue syndrome (Leprechaunism)
- Dubowitz syndrome (narrow or triangle-shaped face with a high or sloping forehead, eczema, vision problems)
- Kabuki syndrome
- KBG syndrome
- Laband syndrome (large facial and limb features with swollen gums)
- Lenz microphthalmia syndrome
- Lissencephaly type 1 (Miller-Dieker syndrome and Norman-Roberts syndrome)
- MCT8-specific thyroid hormone cell transporter deficiency
- Moebius syndrome (eyes do not move from side-to-side, facial paralysis or weakness affecting at least one but usually both sides of the face)
- Meckel-Gruber syndrome
- Megalocornea-intellectual disability syndrome
- Mowat-Wilson syndrome (uplifted ear lobes with a central depression)
- Nager syndrome (often with a blind ending or absent external ear canals causing hearing loss)
- Norrie disease (vision and hearing loss)
- Oculo-dento-digital dysplasia
- Penta X syndrome [abnormal, rudimentary outgrowths of tissue in front of the external ears (preauricular tags)]
- Rabson-Mendenhall syndrome (large teeth, irregular and crowded teeth)
- Smith-Lemli-Opitz syndrome
- Spondyloepiphyseal dysplasia, Kondo-Fu type
- TANC2-related disorders
- Three M syndrome
- Trichorhinophalangeal syndrome type I
- Weaver Syndrome
- Williams-Beuren syndrome
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.
- 48-XXYY Syndrome
- Aarskog syndrome
- Acrodysostosis
- Acromesomelic dysplasia
- Acromicric Dysplasia
- ASXL3-related disorder (Bainbridge-Ropers syndrome)
- Bardet-Biedl Syndrome
- Bowen Hutterite syndrome
- Catel-Manzke syndrome
- Chromosome 3, Trisomy 3q2
- Chromosome 4, Trisomy 4p
- Chromosome 4q deletion
- Chromosome 9 Ring
- Chromosome 9, Tetrasomy 9p
- Chromosome 13, Partial Monosomy 13q
- Chromosome 15 Ring
- Chromosome 18 Ring
- Chromosome 18, Monosomy 18p
- Chromosome 18, Tetrasomy 18p
- Cohen syndrome (small hands and feet)
- Cornelia de Lange syndrome (small hands and feet)
- Craniofrontonasal dysplasia
- Diastrophic dysplasia (disastrophic dwarfism)
- Dubowitz syndrome (narrow or triangle-shaped face with a high or sloping forehead, eczema, vision problems)
- Filippi syndrome
- Floating-Harbor syndrome
- Fountain syndrome (abnormal swelling of cheeks and lips)
- Goltz syndrome
- Gorlin-Chaudhry-Moss syndrome
- Hypomelanosis of Ito (develop areas that lack skin colour)
- Imagawa-Matsumoto syndrome
- Jansen type metaphyseal chondrodysplasia
- KAT6B-related disorders
- KBG syndrome
- Larsen syndrome (prone to dislocation of elbows , hips and knees)
- Lenz microphthalmia syndrome
- Leri Pleonosteosis (flat ‘spade-shaped’ hands and toes)
- Leri-Weill dyschondrosteosis (Madelung deformity is characterized by the bowing and shortening of the bones in the forearms (the radius and the ulna) and the dislocation of the ulna, resulting in the abnormal deviation or misalignment of the wrist)
- Mandibuloacral dysplasia
- Marfan syndrome
- Marinesco-Sjögren syndrome
- Meckel-Gruber syndrome
- Meleda disease
- Melnick-Needles syndrome [last bones in the fingers (distal phalanges) may be shorter than normal]
- Mosaic trisomy 22
- Myhre syndrome
- Oral-facial-digital syndrome
- Homozygous OSMED
- Otopalatodigital syndromes type I and II
- Penta X syndrome
- Poland Syndrome
- Recessive multiple epiphyseal dysplasia
- Refsum syndrome
- Ring chromosome 4
- Robinow syndrome
- Rubinstein-Taybi syndrome
- Russell-Silver syndrome
- Seckel syndrome
- Shprintzen Goldberg syndrome
- Smith-Magenis syndrome (small hands and feet)
- Three M syndrome
- Thrombocytopenia-absent radius syndrome
- Trichorhinophalangeal syndrome type I
- Trichorhinophalangeal syndrome type II (Langer-Giedion syndrome)
- Trichorhinophalangeal syndrome type III (Sugio-Kajii syndrome)
- Trismus-pseudocamptodactyly syndrome [fingers are unusually short, resulting in curved or bent fingers (camptodactyly) when the hand is bent backward at the wrist. If the hand is bent forward at the wrist, the fingers can then be completely extended. The fingers are not permanently fixed in the bent or curved position (“pseudocamptodactyly”)]
- Turner type X-linked syndromic intellectual developmental disorder
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)
- Acrocephalopolysyndactyly disorders (Apert syndrome, Chotzen syndrome, Carpenter syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome)
- Arthrogryposis
- Bardet-Biedl syndrome
- Catel-Manzke syndrome
- Chromosome 3, Monosomy 3p
- Chromosome 3, Trisomy 3q2
- Chromosome 4, Partial Trisomy Distal 4q
- Chromosome 6, Partial Trisomy 6q
- Chromosome 10, distal trisomy 10q and other chromosome deletion disorders
- Congenital fibrosis of the extraocular muscles (Tukel syndrome)
- Cornelia de Lange syndrome
- Craniofrontonasal dysplasia
- Cri du chat syndrome (cry that resembles the mewing of a cat)
- Ectodermal dysplasias
- Ellis-Van Creveld syndrome
- Femoral facial syndrome (abnormal and/or missing hip bone)
- Filippi syndrome
- Frontonasal dysplasia
- Greig cephalopolysyndactyly syndrome
- Goltz syndrome
- Hallermann-Streiff syndrome
- Hereditary neuralgic amyotrophy (recurrent episodes of severe pain in the shoulder and arm)
- HNRNPU-related disorder
- Lacrimo-auriculo-dento-digital (LADD) syndrome
- Laurence-Moon syndrome
- Lenz microphthalmia syndrome
- Lhermitte-Dulclos disease
- Mayer-Rokitansky-Küster-Hauser
- Meckel-Gruber syndrome
- Megalencephaly-capillary malformation syndrome
- Meleda disease
- Miller syndrome
- Moebius syndrome (eyes do not move from side-to-side, facial paralysis or weakness affecting at least one but usually both sides of the face)
- Myhre syndrome (fingers which are stiff and contracted)
- Nager syndrome
- Neu-Laxova syndrome
- Nevoid basal cell carcinoma syndrome (Gorlin syndrome or Gorlin-Goltz syndrome)
- Oculo-dento-digital dysplasia
- Opitz trigonocephaly syndrome
- Oral-facial-digital syndrome
- Orocraniodigital syndrome
- Pallister-Hall syndrome
- Poland Syndrome
- Pterygium syndrome Multiple [webbing of neck, inside bend of the elbows, back of the knees and armpits permanently bent fingers (camptodactyly)]
- Russell-Silver syndrome
- Simpson-Golabi-Behmel syndrome
- Smith-Lemli-Opitz syndrome
- Split hand/foot malformation (claw-like appearance and webbing of fingers and toes)
- Spondylothoracic dysplasia (Lavy-Moseley syndrome, Jarcho-Levin syndrome)
- SYNCRIP-related neurodevelopmental disorder [(gap between the great toe and second toe (sandal gap)]
- Trichorhinophalangeal syndrome type II (Langer-Giedion syndrome)
- Trisomy 13 Syndrome
- Trisomy-18 (Edwards syndrome)
- VACTERL association
- Waardenburg syndrome – [hearing loss this syndrome can cause eye problems and abnormalities in the pigment (colour) of the hair and eyes]
- Yunis-Varon syndrome
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)
