Birth Disorder Information Directory

Pearlman Syndrome (Fetal Ascites with Macrosomia, Nephroblastomatosis, and Wilms Tumor; Fetal Gigantism with Nephroblastomatosis and Renal Hamartomas)

RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM

Pegged Lateral Incisors

See Lateral Incisors, Pegged or Missing/Absent

Pelizaeus Merzbacher Disease

List of Sites

Pena Shokeir Syndrome

Type I

See Fetal Akinesia Sequence

Type II

See Cerebrooculofacioskeletal (COFS) Syndrome

Pendred Syndrome

List of Sites

Pentosuria (L-Xylulose Reductase Deficiency, L-Xylulosuria, Xylitol Dehydrogenase Deficiency)

PEP Syndrome

See Crow Fukase Syndrome

Periodic Paralysis

Hyperkaliemic

PARALYSIE PÉRIODIQUE PRIMITIVE HYPERKALIÉMIQUE

Type 1/Hypokaliemic

See Westphall Disease

Perisylvian Syndrome

Acrocallosal syndrome with MRI findings of perisylvian syndrome: expansion

Pernicious Anemia

Congenital

Due to Defect of Intrinsic Factor

See Biermer Disease

Perniola Krajewska Carnevale Syndrome (Alopecia-Mental Retardation [AMR] Syndrome)

Perodactyly

-Ventricular Extrasystoles with Syncope-Robin Sequence

See Stoll Kieny Dott Syndrome

Peroneal Muscular Atrophy

See Charcot Marie (Tooth) Disease

Persistent Hyperinsulinemic Hypoglycemia of Infancy

See Hypoglycemia, Persistent, Hyperinsulinemic, of Infancy

Pervasive Developmental Disorders

Pfeiffer Syndrome

See Acrocephalopolysyndactyly, Type V

Pfeiffer Cardiocranial Syndrome

See Pfeiffer Singer Zschiesche Syndrome

Pfeiffer Hirschfelder Rott Syndrome (Acromesomelic Syndrome, Pfeiffer Type)

Acromesomelic syndrome pfeiffer type

Pfeiffer Singer Zschiesche Syndrome (Craniostenosis Congenital Heart Disease Mental Retardation, Pfeiffer Cardiocranial Syndrome)

Pfeiffer Syndrome (Pfeiffer Type Acrocephalosyndactyly, Noack Syndrome)

Pfeiffer Tietze Welte Syndrome (Craniosynostosis Mental Retardation Heart Defects)

Craniosynostosis mental retardation heart defects

Phenylalanine Hydroxylase [PAH] Deficiency

See Phenylketonuria

Phenylketonuria (PKU)

List of Sites

Phocomelia

List of Sites

Phosphoethanolaminuria

See Hypophosphatasia, Infantile

Phytanic Acid Oxidase Deficiency

See Refsum Disease

Piebaldism (Piebald Trait)

PIEBALD TRAIT; PBT
with Neurologic Defects

See Telfer Sugar Jaeger Syndrome

Pierre Robin Sequence/Syndrome (Glossoptosis, Micrognathia, and Cleft Palate)

PIERRE ROBIN SYNDROME
Support Group
with Clinodactyly and Hyperphalangy

See Catel Manzke Syndrome

with Faciodigital Anomaly

See Chitayat Meunier Hodgkinson Syndrome

with Fetal Chondrodysplasia

See Weissenbacher Zweymuller Syndrome

Pigmentary Disorder with Hearing Loss

See O'Doherty Syndrome

Pitt-Rogers-Danks Syndrome

Pitt Williams Brachydactyly

See Ballard Syndrome

Pituitary Dwarfism

See Growth Hormone Deficiency
Type II

See Laron Syndrome

Type IV

See Kowarski Syndrome

Plagiocephaly

craniofacial diseases
Craniofacial Surgery...David Herz, M.D.
positional plagiocephaly
Isolated Craniosynostosis (Includes Photos)

Platyspondyly Amelogenesis Imperfecta

See Verloes Bourguignon Syndrome

POEMS Syndrome

See Crow Fukase Syndrome

Poland Anomaly/Syndactyly/Syndrome

Poliodystrophia Cerebri Progressiva

See Alpers Disease

Poliosis

See White Forelock

Polycystic Kidney Disease (PKD)

List of Sites

Polydactyly

List of Sites
-Myopia Syndrome

See Czeizel Brooser Syndrome

with Absent Tibia

Absence of Tibia, with Polydactyly

with Hypoplastic Tibia

Hypoplasia of Tibia, with Polydactyly

with Neonatal Chondrodystrophy

See Short Rib-Polydactyly Syndrome

Polyglandular Autoimmune Syndrome

Type I

See Whitaker Syndrome

Polynesian Bronchiectasis

See Primary Ciliary Dyskinesia

Polysyndactyly

List of Sites

Pompe('s) Disease (Alpha Glucosidase Deficiency; Glycogen Storage Disease, Type II)

Pompe's Group of the Association for Glycogen Storage Disease (UK)

Pontocerebellar Hypoplasia

Type II

Support Group

Popliteal Pterygium Syndrome

See Pterygium, Syndrome, Popliteal

Porencephaly

List of Sites

Porphyria

List of Sites

Potter('s) Syndrome (Potter's Facies)

Potter syndrome
Potter's facies (Includes Photo)
Potter's Syndrome
Potter's Syndrome Webring
Potter's Syndrome
Also see Oligohydramnios and Polycystic Kidney Disease

Posterior Urethral Valves

List of Sites
Also see Prune Belly Syndrome

Powell Venencie Gordon Syndrome (Keratoderma Palmoplantar Spastic Paralysis)

Prader (Labhart) Willi (Fancone) Syndrome (Cryptorchidism with Dwarfism and Subnormal Mentality, Hypogenital Dystrophy with Diabetic Tendency, Hypotonia-Hypomentia-Hypogonadism-Obesity [HHHO] Syndrome)

Prata Liberal Goncalves Syndrome

See Acrodysplasia Scoliosis

Premature Senility Syndrome

See (Hutchinson) Gilford (Progeria) Syndrome

Premolar Hypodontia

See Lateral Incisors, Pegged or Missing/Absent

Prenatal Bowing

PRENATAL BOWING

Prieur Griscelli Syndrome

See Ansell Bywaters Elderking Syndrome

Primary Anemia

See Biermer Disease

Primary Ciliary Dyskinesia (Ciliary Dyskinesia-Bronchiectasis; Polynesian Bronchiectasis; Sterility Due to Immotile Flagella)

List of Sites

Primordial Dwarfism

See Growth Hormone Deficiency

Progeria

Progeria TOC
Progeria Adultorum (Includes Images)
Also see Cockayne Syndrome, Gottron's Syndrome, Werner Syndrome, and Wiedemann Rautenstrauch Syndrome
of Childhood

See (Hutchinson) Gilford (Progeria) Syndrome

Progeroid Syndrome

De Barsy Type

See De Barsy Syndrome

Neonatal

See Wiedemann Rautenstrauch Syndrome

Progressive Cerebral Poliodystrophy

See Alpers Disease

Progressive Combined Variable Immunodeficiency

X-Linked

See Duncan Disease

Progressive Pseudorheumatoid Arthropathy of Childhood (Progressive Pseudorheumatoid Dysplasia, Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy)

Prolidase Deficiency (Hyperimidodipeptiduria)

Properdin Deficiency

X-Linked (Properdin P Factor Deficiency)

PROPERDIN DEFICIENCY, X-LINKED

Propionic Acidemia

List of Sites

Proteus-Like Syndrome

with Mental Retardation and Eye Defects

See Cohen Hayden Syndrome

Proteus Syndrome (Wiedemann's Syndrome; Elephant Man Disease; Partial Gigantism of Hands and Feet with Nevi, Hemihypertrophy, and Macrocephaly)

List of Sites

Proximal Femoral Focal Deficiency

List of Sites

Prune Belly Syndrome (Abdominal Muscle Absence/Aplasia/Deficiency/Defect Anomalad/Syndrome, Eagle Barrett Syndrome, Fröhlich Syndrome, Obrinsky Syndrome, Posterior Valve Urethra, Urethral Obstruction Sequence)

List of Sites

Pseudo-Hurler Polydystrophy (Mucolipidosis, Type III)

Pseudo-Hurler Polydystrophy

Pseudo-Phlorizin Diabetes

See Fanconi Bickel Syndrome

Pseudo(a)chondroplasia

Pseudoadrenoleukodystrophy

See Acyl-Coenzyme A (CoA) Oxydase Deficiency

Pseudoaminopterin Syndrome

See Fetal Aminopterin-Like Syndrome

Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism

See Albright Hereditary Osteodystrophy

Pseudoneonatal Adrenoleukodystrophy

See Acyl-Coenzyme A (CoA) Oxydase Deficiency

Pseudotorch Syndrome (Intrauterine Infection-Like Syndrome with Microcephaly, Intracranial Calcification, and CNS Disease; Microcephaly with Calcification of Cerebral White Matter; Pseudotoxoplasmosis Syndrome)

PSEUDO-TORCH SYNDROME

Pseudotoxoplasmosis Syndrome

See Pseudotorch Syndrome

Pseudotrisomy 13 Syndrome (Holoprosencephaly-Polydactyly Syndrome, Young Maders Syndrome)

Pseudotumor Ceribri

Mysti has Pseudotumor Ceribri

Pseudovaginal Perineoscrotal Hypospadias (Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency, Type II Familial Incomplete Male Pseudohermaphroditism)

Pseudoxanthoma Elasticum (PXE, Grvnblad-Strandberg-Touraine Syndrome, Systemic Elastorrhexis)