Stature and Facioauriculothoracic Malformations SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS SHORT STATURE, FACIAL DYSMORPHISM [rgd.mcw.edu]

Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short [malacards.org]

Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

Clinical: Short stature; brachydactyly; hypoplastic maxilla; scanty hair; hypopigmentation; mental retardation. McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12 th ed. [esanatos.com]

Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short [malacards.org]

By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.es]

All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.es]

Short Stature with Ptosis and Valvular Heart Lesions Dwarfism Stiff Joint Ocular Abnormalities Dwarfism Tall Vertebrae Dwarfism, Familial, with Muscle Spasms Dwarfism, Levi Type Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone [rgd.mcw.edu]

Symptoms - Less than 30% cases Aplastic clavicle Cardiomyopathy Thickened nuchal skin fold Inguinal hernia Splenomegaly Submucous cleft hard palate Polydactyly Myopathy Intellectual disability, mild Underdeveloped supraorbital ridges Microphthalmia Corneal [mendelian.co]

* Cleft lip palate abnormal thumbs microcephaly * Cleft lip palate deafness sacral lipoma * Cleft lip palate dysmorphism Kumar type * Cleft lip palate ectrodactyly * Cleft lip palate incisor and finger anomalies * Cleft lip palate mental retardation corneal [medicalgeek.com]

opacity Cleft lip palate oligodontia syndactyly pili torti Cleft lip palate pituitary deficiency Cleft lip palate-tetraphocomelia Cleft lower lip cleft lateral canthi chorioretinal Cleft palate cardiac defect ectrodactyly Cleft palate colobomata radial [rarediseases.annualcongress.com]

[…] syndrome ablepharon macrostomia syndrome Abuse Dwarfism Syndrome achondroplasia acromesomelic dysplasia ADULT syndrome Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Albinism Deafness Syndrome Aloi Tomasini Isaia Syndrome alopecia [rgd.mcw.edu]

Review 1984 Review 1984 Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. Robert E Tipton, Robert J. [semanticscholar.org]

The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. [keratin.com]

2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

hair 32 HP:0008070 20 distichiasis 32 HP:0009743 21 short phalanx of finger 32 HP:0009803 22 short metacarpal 32 HP:0010049 23 short metatarsal 32 HP:0010743 UMLS symptoms related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism: irregular nystagmus [malacards.org]

This syndrome has characteristics of congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. [ncbi.nlm.nih.gov]

Hair Thai Symphalangism Syndrome Thoraco Limb Dysplasia Rivera Type Thoracomelic Dysplasia Three M Syndrome 2 Thumb Deformity, Alopecia, Pigmentation Anomaly tooth and nail syndrome torsion dystonia with onset in infancy Trichoodontoonychial Dysplasia [rgd.mcw.edu]

In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]

Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short [malacards.org]

Absent pubic hair MedGen UID: 349155 • Concept ID: C1859391 • Finding Absence of pubic hair. Absent axillary hair MedGen UID: 347869 • Concept ID: C1859392 • Finding Absence of axillary hair. [ncbi.nlm.nih.gov]

hair; thin to absent body hair; follicular hyperkeratosis Sparse; alopecia Sparse; fine and slow-growing hair Woolly, wavy, wiry and auburn hair; sparse eyebrows and eyelashes Hair Absence of mandibular central incisors; misshaped; proeminent Normal [docksci.com]

Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short [malacards.org]

Absent pubic hair MedGen UID: 349155 • Concept ID: C1859391 • Finding Absence of pubic hair. Absent axillary hair MedGen UID: 347869 • Concept ID: C1859392 • Finding Absence of axillary hair. [ncbi.nlm.nih.gov]

hair; thin to absent body hair; follicular hyperkeratosis Sparse; alopecia Sparse; fine and slow-growing hair Woolly, wavy, wiry and auburn hair; sparse eyebrows and eyelashes Hair Absence of mandibular central incisors; misshaped; proeminent Normal [docksci.com]

Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. [ncbi.nlm.nih.gov]

Nystagmus MedGen UID: 45166 • Concept ID: C0028738 • Disease or Syndrome Involuntary movements of the eye that are divided into two types, jerk and pendular. [ncbi.nlm.nih.gov]