Apparent at Birth: Causes & Reasons

Possible Causes for Apparent at Birth

Type IA becomes apparent later in childhood and is less severe. Type IB is apparent immediately at birth and is more severe. [medicinenet.com]

Those affected with type 1A develop a milder set of symptoms later in childhood, while individuals with type 1B display symptoms that are more severe and apparent upon birth [catalystcr.com]

Type II, like type IB, is apparent immediately at birth and is more severe. Features of type II are joint contractures, bone dysplasia, and small stature. [medicinenet.com]

Baller-Gerold Syndrome

Abstract Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. [ncbi.nlm.nih.gov]

[…] at birth (congenital). [hekim.org]

Craniosynostosis with Radial Defects Craniosynostosis-Radial Aplasia Syndrome Disorder Subdivisions None General Discussion Baller-Gerold Syndrome is a rare genetic disorder that is apparent [metrohealth.net]

Classic Maple Syrup Urine Disease

The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. [uniprot.org]

Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems [icdlist.com]

TYPES OF MSUD The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. [medicaldaily.com]

Maple Syrup Urine Disease Mild Variant

The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. [ncbi.nlm.nih.gov]

TYPES OF MSUD The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. [medicaldaily.com]

Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems [ncbi.nlm.nih.gov]

Perisylvian Polymicrogyria with Cerebellar Hypoplasia and Arthrogryposis

[…] at birth, infancy, or later during childhood, and may include partial paralysis of the face, tongue, jaw, and throat; problems with speech and swallowing; excessive drooling [rarediseases.info.nih.gov]

[…] improperly on both sides of the brain near the Sylvian fissure, resulting in an increased number of folds that are unusually small.[1] Signs and symptoms typically become apparent [rarediseases.info.nih.gov]

Desbuquois Dysplasia Type 1

1 Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 57 6 61 31988067 2020 2 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 6 57 Nizon M...Cormier-Daire V 22539336 2012 3 Desbuquois dysplasia type I[…] [malacards.org]

Combined Oxidative Phosphorylation Defect Type 37

Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. [ncbi.nlm.nih.gov]

Alpha Type Methemoglobinemia

If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain (141900) is affected, cyanosis appears later or intensifies [ncbi.nlm.nih.gov]

Alpha-chain substitutions cause cyanosis at birth, whereas the effects of beta-chain substitutions become clinically apparent in infants at 4-6 months of age. [emedicine.medscape.com]

Conjugated Hyperbilirubinemia Type 3

The symptoms of CNS type I generally become apparent shortly after birth. [liverfoundation.org]

Pyruvate Dehydrogenase Deficiency

Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. [medlineplus.gov]

Pontocerebellar Hypoplasia Type 8

This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood. [medlineplus.gov]

Pontocerebellar Hypoplasia Type 10

This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood. [medlineplus.gov]

Anemia of Prematurity

apparent at birth and symptoms do not appear until fetal hemoglobin levels have fallen to sufficiently low levels at 3 to 4 months of age and are replaced by adult hemoglobin [merckmanuals.com]

Because beta globin is naturally low at birth, beta-thalassemia and structural abnormalities of the beta globin chain (eg, Hb S [sickle cell disease], Hb C) are not clinically [merckmanuals.com]

Crigler-Najjar Syndrome Type 2

In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. [medlineplus.gov]

The symptoms of CNS type I generally become apparent shortly after birth. [liverfoundation.org]

Signs & Symptoms The symptoms of Crigler-Najjar syndrome type I become apparent shortly after birth. [rarediseases.org]

Spondylocostal Dysostosis Type 2

Costovertebral anomalies with apparent recessive inheritance. Birth Defects OAS. 1969;18:326–9. [ncbi.nlm.nih.gov]

Autosomal Recessive Osteopetrosis Type 8

The autosomal recessive form, also called the malignant infantile type, is apparent soon after birth and frequently shortens life expectancy. [rarediseases.org]

[…] at birth. [adc.bmj.com]

Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type, is apparent from birth, and if left untreated [rarediseases.org]

Monosomy 22q

Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood. [mayoclinic.org]

If certain conditions — a severe heart defect, cleft palate or a combination of other factors typical of 22q11.2 deletion syndrome — are readily apparent at birth, diagnostic [mayoclinic.org]

Doctors may suspect 22q11.2 deletion syndrome: At birth. [mayoclinic.org]

Pontocerebellar Hypoplasia Type 2D

This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood. [medlineplus.gov]

Infantile Malignant Osteopetrosis

The autosomal recessive form, also called the malignant infantile type, is apparent soon after birth and frequently shortens life expectancy. [rarediseases.org]

Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type, is apparent from birth, and if left untreated [rarediseases.org]

Die Smulders Vles Fryns Syndrome

Diagnosis Symptoms of the syndrome are apparent at birth. [accesspediatrics.mhmedical.com]

Adult-Onset Nemaline Myopathy

Severe Congenital (Neonatal) Nemaline Myopathy This form of nemaline myopathy is apparent at birth and accounts for approximately 16 percent of cases. [rarediseases.org]

Methemoglobinemia Type Beta

If the mutation occurs in the hemoglobin alpha subunit (141800), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies [ncbi.nlm.nih.gov]

This color might be apparent at birth or shortly afterward. [medicalnewstoday.com]

Alpha-chain substitutions cause cyanosis at birth, whereas the effects of beta-chain substitutions become clinically apparent in infants at 4-6 months of age. [emedicine.medscape.com]

Microcytic Normochromic Anemia

In this condition, red blood cells cannot access iron in the blood, so there is a decrease of red blood cell production (anemia) that is apparent at birth. [medlineplus.gov]

Setleis Syndrome

Setleis syndrome is characterized by disturbances in the face, which may be apparent at birth. [amp.en.google-info.in]

Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (congenital). [882m.com]

Microphthalmia Type Lenz

Affected Populations Lenz microphthalmia syndrome is an extremely rare inherited disorder that is fully expressed in males only and is apparent at birth. [rarediseases.org]

[…] at birth (congenital). [rarediseases.org]

Signs & Symptoms Lenz Microphthalmia syndrome, also known as microphthalmia or anophthalmos with Associated Anomalies, is an extremely rare inherited disorder that is apparent [rarediseases.org]

Congenital Onychauxis

The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by Sehgal, 2007). [ncbi.nlm.nih.gov]

Spondylocostal Dysostosis Type 4

Costovertebral anomalies with apparent recessive inheritance. Birth Defects OAS. 1969;18:326–9. [ncbi.nlm.nih.gov]

Distal Trisomy 2p

Many of the symptoms and physical features associated with the disorder are apparent at birth (congenital). [rarediseases.org]

Pyruvate Carboxylase Deficiency Type A

Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. [medlineplus.gov]

Spondylocostal Dysostosis Type 1

Costovertebral anomalies with apparent recessive inheritance. Birth Defects OAS. 1969;18:326–9. [ncbi.nlm.nih.gov]