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ablepharon macrostomia syndrome
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
acromesomelic dysplasia +
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
anterior segment dysgenesis +
Asymmetric Short Stature Syndrome
Autoimmune Interstitial Lung, Joint, and Kidney Disease
Axenfeld-Rieger syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Bird Headed Dwarfism Montreal Type
Brachydactylous Dwarfism Mseleni Type
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
brittle cornea syndrome +
Bullous Dystrophy, Hereditary Macular Type
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type 1
Camptodactyly Syndrome Guadalajara Type 2
Camptodactyly Vertebral Fusion
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptosynpolydactyly, Complex
Cantu Sanchez-Corona Fragoso Syndrome
Carnevale Hernandez Castillo Syndrome
Chemke Oliver Mallek Syndrome
Chitayat Meunier Hodgkinson Syndrome
Chondrodysplasia Calcificans Metaphysealis
Chondrodysplasia, Megarbane-Dagher-Melki Type
Chondromatosis, Synovial +
chromosome 6pter-p24 deletion syndrome
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
cold-induced sweating syndrome +
Cole-Carpenter syndrome +
Colobomatous Macrophthalmia with Microcornea
congenital hypothyroidism +
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +
Coracoclavicular Joint, Anomalous
Cranioacrofacial Syndrome
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniosynostosis with Ocular Abnormalities and Hallucal Defects
Craniosynostosis, Adelaide Type
Cryptophthalmos, Unilateral or Bilateral, Isolated
Daneman Davy Mancer Syndrome
De Sanctis-Cacchione Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal arthrogryposis type 3
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism, Familial, with Muscle Spasms
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyssegmental Dysplasia with Glaucoma
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
Extensor Tendons of Fingers, Anomalous Insertion of
exudative vitreoretinopathy +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Femoracetabular Impingement
Femur Bifid with Monodactylous Ectrodactyly
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Foveal Hypoplasia and Anterior Segment Dysgenesis
Frints De Smet Fabry Fryns Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
geroderma osteodysplasticum
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
hand-foot-genital syndrome
Heart-Hand Syndrome, Slovenian Type
hereditary arterial and articular multiple calcification syndrome +
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature
intellectual developmental disorder with short stature and behavioral abnormalities
iridogoniodysgenesis syndrome +
isolated growth hormone deficiency +
Joint Deformities, Acquired
Kenny-Caffey Syndrome, Type 2
Keratosis Follicularis Dwarfism Cerebral Atrophy
Laplane Fontaine Lagardere Syndrome
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Mammary-Digital-Nail Syndrome
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Metaphyseal Acroscyphodysplasia
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly with Mental Retardation and Digital Anomalies
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microcornea, Glaucoma, and Absent Frontal Sinuses
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
Mollica Pavone Antener Syndrome
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Muller Barth Menger Syndrome
Nephrotic Syndrome with Ocular Anomalies
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
Neurofaciodigitorenal Syndrome
Oculoauriculofrontonasal syndrome
Oculocerebrocutaneous Syndrome
oculodentodigital dysplasia +
Oculomaxillofacial Dysostosis
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Oliver-McFarlane syndrome
Oroacral Syndrome, Verloes-Koulischer Type
Oto-Palato-Digital Syndrome Type 1
Oto-Palato-Digital Syndrome, Type 2
Otopalatodigital Spectrum Disorder
otospondylomegaepiphyseal dysplasia
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
patellofemoral pain syndrome
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Pena Shokeir Syndrome Type 2
persistent hyperplastic primary vitreous +
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
popliteal pterygium syndrome +
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Prepapillary Vascular Loops
primary hypertrophic osteoarthropathy +
Progeroid Facial Appearance with Hand Anomalies
progressive pseudorheumatoid arthropathy of childhood
Proportionate Dwarfism, with Hip Dislocation
Pseudodiastrophic Dysplasia
Pseudotrisomy 13 Syndrome
Pupillary Membrane, Persistence of
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Rhizomelic Dysplasia Patterson Lowry Type
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Sanderson Fraser Syndrome
Say Field Coldwell syndrome
Schinzel-Giedion Syndrome
Seckel Like Syndrome Type Buebel
Second Metatarsal-Metacarpal Syndrome
secondary hypertrophic osteoarthropathy
Short Limb Dwarfism Al Gazali Type
Short Stature and Facioauriculothoracic Malformations
Short Stature and Locking Fingers
Short Stature and Microcephaly with Genital Anomalies
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, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Short Stature-Obesity Syndrome
shoulder impingement syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Singh Chhaparwal Dhanda Syndrome
Split Hand Split Foot Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Stoll Alembik Dott Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synovial Chondromatosis, Familial, with Dwarfism
tarsal-carpal coalition syndrome
Tel Hashomer Camptodactyly Syndrome
Temporomandibular Joint Disorders +
Terminal Osseous Dysplasia and Pigmentary Defects
Thai Symphalangism Syndrome
Thoraco Limb Dysplasia Rivera Type
Tollner Horst Manzke Syndrome
torsion dystonia with onset in infancy
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Tryptophanuria with Dwarfism
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Ventricular Extrasystoles Perodactyly Robin Sequence
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weill-Marchesani Syndrome 2
Weyers Ulnar Ray/Oligodactyly Syndrome
Zimmerman Laband Syndrome +
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