Rare Disease Library

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Jansen-de Vries syndrome

JDVS · Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

OBSOLETE: Sparse hair-short stature-skin anomalies syndrome

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Pierpont syndrome

Plantar lipomatosis-facial dysmorphism-developmental delay syndrome · Plantar lipomatosis-unusual facies-developmental delay syndrome

Short stature-brachydactyly-obesity-global developmental delay syndrome

SBIDDS

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Beaulieu-Boycott-Innes syndrome · BBIS

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome