Abnormalities

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Category

Possible Abnormalities

General

Learning	Learning Difficulties, Speech Delay
Behavior	Distemperment
Growth/Nutrition	IUGR, Feeding Problems, Failure To Thrive (FTT)

Craniofacial

Eye	Ptosis/Blepharoptosis, Ocular Coloboma, Iris Coloboma, Eyelid Coloboma, Strabismus, Optic Atrophy, Epicanthal Folds, Hypertelorism, Telecanthus
Ear	External Ear Anomalies, Low-set Ears, Chronic Otitis
Mouth	High/Cleft Palate, Large Carp-shaped Mouth, Dental Anomalies, Oral Aversion/Feeding Difficulties
Nose	Depressed Nasal Bridge, Short Nose, Upturned Nasal Tip, Anteverted Nostrils
Jaw	Micrognathia/Retrognathia,
Neck	Short Neck

Surface

Trunk	Inguinal Hernia, Annular Pancreas, Pectus Excavatum, Widely Spaced Nipples, Diastasis of the Rectus Abdominis Muscle
Skin and Nails	Eczema, Deeply Set Nails

Skeletal

Cranial	Trigonocephaly, Craniosynostosis, Microcephaly, Macrocephaly, Flat Occiput, Hydrocephalus, Prominent Forehead
Chest	Missing Ribs, Barrel Chest
Axial	Vertebral Anomalies
Limbs	Digital Anomalies, Short Fingers, Syndactyly, Polydactyly, Fifth Finger Clinodactyly, Camptodactyly, Brachydactyly, Hammer Toe, High-implanted Short Thumbs, Single Palmar Crease (Simian Crease)
Connective Tissue	Joint Contractures

Internal

Digestive	Pyloric Stenosis, Chronic Constipation, Anal Stenosis
Pulmonary	Pneumonias, Frequent Respiratory Infections
Cardiovascular	Cardiac Anomalies, Ventricle Septal Defects, Atrial Septal Defects, Hypoplastic Left Heart Syndrome
Endocrine	Hypoglycemia, Hepatomegaly, Splenomegaly
Immunity	Recurrent Infections, Weakened Immune System
Hematology	Paris-Trousseau Syndrome, Thrombocytopenia, Pancytopenia, Anemia, Leukopenia
Excretory	Urinary Tract Anomalies, Urinary Tract Infections, Hydronephrosis, Polycystic Kidneys, Vesicoureteral Reflux
Genital - Male	Undescended Testes (Cryptorchidism), Hypospadias, Delayed Puberty
Genital - Female	Labia Hypoplasia/Minora, Clitoral Hypoplasia, Delayed Puberty

Neuromuscular

Central Nervous System	Brain Anomalies, Agenesis of Corpus Callosum, Cerebral Hypoplasia, Decreased Myelination, Holoprosencephaly, Psychomotor Retardation
Neurosensory	Hearing Loss, Vision Problems
Muscular	Hypotonia, Spasticity

Miscellaneous/Heredity

75% Of affected individuals are female, Breakingpoints include: 11q14-q22, 11q21, 11q22, 11q23, 11q23.3, 11q23-qter, 11q24.1, 11q24.1-qter and 11q24.2