High palate, and Premature birth

Diseases related with High palate and Premature birth

In the following list you will find some of the most common rare diseases related to High palate and Premature birth that can help you solving undiagnosed cases.

Top matches:

Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Other less relevant matches:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia

Related symptoms:

  • Growth delay
  • Micrognathia
  • Flexion contracture
  • High palate
  • Abnormality of the skeletal system


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Top 5 symptoms//phenotypes associated to High palate and Premature birth

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Premature birth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Narrow mouth High, narrow palate Micrognathia Retrognathia Failure to thrive Decreased fetal movement Downslanted palpebral fissures Global developmental delay Proptosis Intellectual disability Microcephaly Edema Skeletal muscle atrophy Short stature Seizures Abnormal facial shape Low-set ears Congenital contracture Oligohydramnios Pulmonary hypoplasia Cleft palate Congestive heart failure Hydrocephalus Hydrops fetalis Dysphagia Generalized hypotonia Hypokinesia Polyhydramnios

Rare Symptoms - Less than 30% cases

Fetal akinesia sequence Cardiomegaly Short nose Abnormality of the skeletal system Cryptorchidism Narrow nose Pes valgus Depressed nasal ridge Aortic aneurysm Lipodystrophy Depressed nasal bridge Talipes equinovarus Short neck Respiratory insufficiency Postnatal growth retardation Convex nasal ridge Ascites Delayed cranial suture closure Areflexia Respiratory failure Highly arched eyebrow Overlapping fingers Underdeveloped nasal alae Everted upper lip vermilion Long philtrum Muscular hypotonia Prominent nasal bridge Ptosis Hepatomegaly Anteverted nares Cardiomyopathy Splenomegaly Inguinal hernia Hepatosplenomegaly Arachnodactyly Pancytopenia Scoliosis Generalized amyotrophy Coarctation of aorta Abnormality of the thorax Anemia Fractures of the long bones Strabismus Akinesia Multiple joint contractures Severe muscular hypotonia Pes planus Thoracic hypoplasia Abnormal cardiac septum morphology Multiple prenatal fractures Respiratory distress Peripheral neuropathy Myopia Neonatal respiratory distress Atrial septal defect Blepharophimosis Camptodactyly Dilatation Camptodactyly of finger Ventricular septal defect Thrombocytopenia Macrocephaly 11 pairs of ribs Aplastic anemia Increased mean corpuscular volume Anemia of inadequate production Partial duplication of thumb phalanx Reticulocytopenia Osteosarcoma Hypoplastic ilia Unilateral cleft lip Parietal foramina Congenital hypoplastic anemia Cavum septum pellucidum Cleft upper lip Erythroid hypoplasia Ulnar deviation of the hand Macrocytic anemia Branchial cyst Persistence of hemoglobin F Hypoplastic anemia Elevated red cell adenosine deaminase activity Bifid thoracic vertebrae Transient erythroblastopenia Hypoplastic coccygeal vertebrae Hypoplastic sacral vertebrae Neoplasm Sensorineural hearing impairment Vomiting Malar flattening Thrombocytosis Myeloid leukemia Hydranencephaly Hypoplasia of the radius Neutropenia Webbed neck Nausea and vomiting Fatigue Narrow chest Lethargy Leukemia Pallor Intestinal hypoplasia Short thumb Bone marrow hypocellularity Abnormal dermatoglyphics Absent palmar crease Abnormality of the hand Acute myeloid leukemia Cleft lip Myelodysplasia Triphalangeal thumb Glaucoma Congenital glaucoma Colon cancer Vertebral fusion Small placenta Short umbilical cord Absent thumb Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Nausea Abnormal heart morphology Muscle weakness Immunodeficiency Knee flexion contracture Petechiae Opisthotonus Abnormality of coagulation Apathy Pleural effusion Ectropion Intracranial hemorrhage Poor suck Purpura Thickened skin Distal arthrogryposis Abnormality of the face Open mouth Progressive neurologic deterioration Interphalangeal joint contracture of finger Cerebral calcification Abnormal bleeding Triangular face Metabolic acidosis Everted lower lip vermilion Congenital ichthyosiform erythroderma Cardiorespiratory arrest Ichthyosis Myocardial necrosis Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Hepatic necrosis Nonimmune hydrops fetalis Abnormality of the spinal cord Severe hydrops fetalis Generalized hyperkeratosis Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Hepatic failure Abnormality of eye movement Depressivity Short palm Aortic regurgitation Sandal gap Oculomotor apraxia Coxa valga Pointed chin Recurrent urinary tract infections Bowing of the long bones Choanal atresia Short distal phalanx of finger Smooth philtrum Language impairment Joint hyperflexibility Facial asymmetry Toe syndactyly Attention deficit hyperactivity disorder Hyperlordosis Deeply set eye Thin upper lip vermilion Recurrent respiratory infections Clinodactyly of the 5th finger Pyloric stenosis Obsessive-compulsive behavior Microtia Hypertonia Abnormality of the liver Abnormality of the pinna Developmental regression Apnea Low-set, posteriorly rotated ears Neonatal hypotonia Elevated hepatic transaminase Jaundice Hyperkeratosis Ventriculomegaly Bowel incontinence Hyperreflexia Spasticity Branchial fistula Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Tics Truncus arteriosus Ulnar deviation of finger Long face Kyphosis Excessive daytime somnolence Dental crowding Hypercholesterolemia Hyperlipidemia Acanthosis nigricans Short chin Wormian bones Insulin resistance Short phalanx of finger Thin skin Hyperinsulinemia Hypertriglyceridemia Epidermal acanthosis Nail dysplasia Full cheeks Abnormality of skin pigmentation Sparse hair Joint stiffness Alopecia Dermal atrophy Brittle hair Narrow palm Hypoplasia of teeth Contractures of the large joints Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Generalized lipodystrophy Narrow nasal ridge Abnormality of hair texture Poor wound healing Abnormality of the neck Hyperglycemia Hypoplastic fingernail Osteolytic defects of the phalanges of the hand Abnormally large globe Premature loss of teeth Insulin-resistant diabetes mellitus Short clavicles Lipoatrophy Glucose intolerance Prominent scalp veins Dural ectasia Osteolytic defects of the distal phalanges of the hand Increased variability in muscle fiber diameter Hypertension EMG: myopathic abnormalities Myopathic facies Diaphragmatic eventration Muscle fiber atrophy Secundum atrial septal defect Axonal loss Spinal muscular atrophy Ophthalmoplegia Patent foramen ovale Microretrognathia Hypohidrosis Facial diplegia Nemaline bodies Peripheral axonal neuropathy Type 1 muscle fiber predominance Patent ductus arteriosus Generalized muscle weakness Pectus excavatum Hyperextensibility of the finger joints Cutis laxa Entropion Progeroid facial appearance Severe intrauterine growth retardation Scaphocephaly Aortic root aneurysm Reduced subcutaneous adipose tissue Ectopia lentis Relative macrocephaly Increased body weight Prominent forehead Tall stature High myopia Mitral valve prolapse Bruising susceptibility Craniosynostosis Difficulty walking Gastroesophageal reflux Facial palsy Bird-like facies Loss of facial adipose tissue Depressed nasal tip Gingival overgrowth Visceromegaly Conjugated hyperbilirubinemia Dysostosis multiplex Fair hair Esophageal atresia Metaphyseal irregularity Aspiration Nephrotic syndrome J-shaped sella turcica Hypopigmentation of the skin Abnormality of the foot Severe global developmental delay Corneal opacity Respiratory tract infection Coarse facial features Osteopenia Hernia Vacuolated lymphocytes Fetal ascites Cerebellar atrophy Rocker bottom foot Adrenal hypoplasia Abnormality of abdomen morphology Anencephaly Fatigable weakness Thin ribs Absent septum pellucidum Slender long bone Cystic hygroma Pterygium Motor delay Abnormality of pelvic girdle bone morphology Short palpebral fissure Dandy-Walker malformation Small for gestational age Telecanthus Polydactyly Posteriorly rotated ears Cerebellar hypoplasia Cerebral atrophy Epicanthus Increased adipose tissue around the neck Decreased adipose tissue around neck Syndactyly Intellectual disability, mild Wide nasal bridge Delayed speech and language development Cognitive impairment Hyporeflexia Facial shape deformation Abnormal tongue morphology Autism Loss of truncal subcutaneous adipose tissue Increased circulating free fatty acid level Increased subcutaneous truncal adipose tissue Reduced intrathoracic adipose tissue Prominent superficial blood vessels Progressive clavicular acroosteolysis Acroosteolysis of distal phalanges (feet) Increased intraabdominal fat Delayed skeletal maturation Autistic behavior Nystagmus Overlapping toe Ataxia Posterior helix pit Mild myopia Overbite Preeclampsia Low hanging columella Long nose Broad hallux Delayed gross motor development Carious teeth Narrow palate Long eyelashes Broad thumb Prominent nose Dental malocclusion Intestinal malrotation Hirsutism Genu valgum Mild fetal ventriculomegaly


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