Frontal bossing, and Delayed puberty

Diseases related with Frontal bossing and Delayed puberty

In the following list you will find some of the most common rare diseases related to Frontal bossing and Delayed puberty that can help you solving undiagnosed cases.

Top matches:

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY Is also known as disordered steroidogenesis due to por deficiency|congenital adrenal hyperplasia due to cytochrome por deficiency|pord|adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency|por deficiency

Related symptoms:

  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

High match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Top 5 symptoms//phenotypes associated to Frontal bossing and Delayed puberty

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Delayed puberty. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape High forehead Hypertelorism Seizures Global developmental delay Cognitive impairment Cryptorchidism Growth delay Midface retrusion Strabismus Short nose Peripheral neuropathy Hearing impairment Narrow mouth Proptosis Nystagmus Anteverted nares Small for gestational age Sparse hair Delayed speech and language development Failure to thrive Hypothyroidism Ataxia Micropenis Hypogonadism Optic atrophy Pigmentary retinopathy

Rare Symptoms - Less than 30% cases

Osteoporosis Dental malocclusion Abnormality of the pinna Broad forehead Craniosynostosis Long face Low-set ears Hip dysplasia Aciduria Muscular hypotonia of the trunk Mandibular prognathia Upslanted palpebral fissure Abnormality of the skeletal system Myopia Feeding difficulties Micrognathia Generalized hypotonia Prominent forehead Decreased serum testosterone level Decreased testicular size Diarrhea Primary amenorrhea Depressed nasal ridge Microtia Respiratory tract infection Conductive hearing impairment Hernia Intrauterine growth retardation Sensorineural hearing impairment Depressed nasal bridge Dental crowding Prominent nose Thick vermilion border Wide mouth Choanal atresia Diabetes mellitus Gastroesophageal reflux Cerebellar hypoplasia Ventricular septal defect Motor delay Dehydration Fine hair Decreased serum estradiol Hepatomegaly Amenorrhea Choanal stenosis Flat occiput High palate Brachycephaly Retinal degeneration Sparse scalp hair Rod-cone dystrophy Gait ataxia Hypogonadotrophic hypogonadism Growth hormone deficiency Photophobia Peripheral axonal neuropathy Visual impairment Severe short stature Alopecia Respiratory distress Blindness Kyphosis Distal amyotrophy Cerebellar atrophy Muscle weakness Protruding ear Recurrent corneal erosions Camptodactyly Mental deterioration Cerebral atrophy Babinski sign Abnormality of metabolism/homeostasis Hypophosphatemic rickets Intellectual disability, mild Dystonia Prominent nasal bridge Primary hypothyroidism Gait disturbance Decreased plasma carnitine Abnormality of movement Arthrogryposis multiplex congenita Microscopic hematuria Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Hypergonadotropic hypogonadism Hallucinations Choreoathetosis Myocardial infarction Psychosis Hypotrichosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Flushing Triangular face Polyneuropathy Preeclampsia Heat intolerance Sensory neuropathy Generalized aminoaciduria Male hypogonadism Dysarthria Dysgerminoma Hyperreflexia Sleep apnea Keratitis Episodic metabolic acidosis Melanocytic nevus Trigonocephaly Atresia of the external auditory canal Arnold-Chiari malformation Hypopigmented skin patches Increased intracranial pressure Torticollis Gonadal dysgenesis Acanthosis nigricans Conjunctivitis Narrow palate Amblyopia Convex nasal ridge Oral motor hypotonia Hypoplasia of the maxilla Iris coloboma Cleft lip Rachitic rosary Syringomyelia Cartilaginous trachea Sagittal craniosynostosis Narrow internal auditory canal Multiple suture craniosynostosis Autoimmune thrombocytopenia Abnormal sacrum morphology Abnormality of the nasopharynx Short upper lip Abnormality of the cervical spine Craniofacial dysostosis Lambdoidal craniosynostosis Cloverleaf skull Scaphocephaly Gonadoblastoma Coronal craniosynostosis Abnormality of the skull Turricephaly Papilledema Shallow orbits Renal Fanconi syndrome Corneal crystals Retinal pigment epithelial mottling Hypoplasia of the uterus Anodontia Insulin-resistant diabetes mellitus Nephrolithiasis Peripheral pulmonary artery stenosis Abnormality of skin pigmentation Hypopigmentation of the skin Generalized muscle weakness Memory impairment Abnormal thrombocyte morphology Abnormality of the pancreas Cerebral calcification Progressive neurologic deterioration Villous atrophy Stage 5 chronic kidney disease Large forehead Hypohidrosis Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Chronic kidney disease Iron deficiency anemia Curly hair Abnormality of the immune system Trichorrhexis nodosa Confusion Brittle hair Galactosuria Splenomegaly Vomiting Myopathy Dysphagia Skeletal muscle atrophy Fever Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Humoral immunodeficiency Genu valgum Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Proteinuria Retinopathy Failure to thrive in infancy Hypoalbuminemia Heart block Hypopigmentation of hair Polyhydramnios Abnormal heart morphology Thrombocytopenia Immunodeficiency Long philtrum Glycosuria Edema Male infertility Wide nasal bridge Exocrine pancreatic insufficiency Elevated hepatic transaminase Anemia Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Renal insufficiency Jaundice Abnormality of the liver Recurrent upper respiratory tract infections Pancytopenia Polydipsia Leukopenia Aortic regurgitation Metaphyseal widening Abnormality of the hair Hepatic fibrosis Rickets Abnormality of the dentition Chronic diarrhea Hyponatremia Pulmonic stenosis Tetralogy of Fallot Oral-pharyngeal dysphagia Premature birth Bifid uvula Sepsis Wide nose Hepatic failure Cirrhosis Dry skin Polyuria Headache Thickened calvaria Hydrocephalus Proximal femoral metaphyseal irregularity Pectus carinatum Hypertrophic cardiomyopathy Deeply set eye Absent speech Cardiomyopathy Spasticity Cataract Irregular iliac crest Enchondroma Cupped ribs Abnormality of the foot Aplasia/hypoplasia of the extremities Narrow greater sacrosciatic notches Prominent sternum Anterior rib cupping Spondylometaphyseal dysplasia Thoracic dysplasia Ovoid vertebral bodies Thoracic kyphosis Bell-shaped thorax Congenital cataract Inability to walk Metaphyseal dysplasia Tall stature Decreased fertility Femoral bowing Disproportionate tall stature Bifid scrotum Acne Clitoral hypertrophy Polycystic ovaries Reduced bone mineral density Accelerated skeletal maturation Ambiguous genitalia Increased serum lactate Hirsutism Arachnodactyly Clinodactyly Hypospadias Hypertension Flexion contracture Abnormality of mitochondrial metabolism Optic nerve hypoplasia Absence seizures Esotropia Bronchitis Thoracic hypoplasia Aortic root aneurysm Long eyelashes Alopecia areata Titubation Recurrent hypoglycemia Progressive gait ataxia Retinal atrophy Chorioretinal atrophy Sensory axonal neuropathy Horizontal nystagmus Gynecomastia Clumsiness Long eyebrows Hypoplasia of penis Progressive cerebellar ataxia Thick eyebrow Paraplegia Spastic paraplegia Distal muscle weakness Pallor Hypoglycemia Obesity Choroideremia Central heterochromia Short femoral neck Abnormality of the metaphysis Mild short stature Metaphyseal irregularity Neonatal respiratory distress Epiphyseal dysplasia Coxa vara Recurrent pneumonia Short ribs Rhizomelia Bowing of the long bones Limb undergrowth Visual loss Progressive visual loss Retinal dystrophy Astigmatism Platyspondyly Nyctalopia Postnatal growth retardation Telecanthus Skeletal dysplasia Reduced visual acuity Pneumonia Generalized hyperpigmentation Primary adrenal insufficiency Respiratory insufficiency Hallux valgus Deviated nasal septum Increased head circumference Perseveration Speech apraxia Left ventricular noncompaction Slender build Right ventricular hypertrophy Mild global developmental delay Ankylosis Patent foramen ovale Recurrent respiratory infections Nasal speech Poor suck Relative macrocephaly Widely spaced teeth Clonus Open mouth Intention tremor Abnormal cerebellum morphology High, narrow palate Cleft palate Posteriorly rotated ears Short philtrum Tracheomalacia Ptosis Nasogastric tube feeding Tracheobronchomalacia Subglottic stenosis Bronchomalacia Entropion Patellar aplasia Hypoplastic labia majora Stenosis of the external auditory canal Cortical gyral simplification Umbilical hernia Emphysema Short middle phalanx of finger Laryngomalacia Sandal gap Microretrognathia Lumbar hyperlordosis Underdeveloped nasal alae Delayed myelination Single transverse palmar crease Hyperlordosis Poor speech Abnormal cardiac septum morphology Male pseudohermaphroditism Enlarged polycystic ovaries Premature adrenarche Adrenocorticotropic hormone excess Adrenogenital syndrome Hypoplasia of the vagina Increased serum testosterone level Ambiguous genitalia, female Decreased fertility in females Congenital adrenal hyperplasia Increased circulating ACTH level Abnormality of the menstrual cycle Decreased fertility in males Urogenital sinus anomaly Ambiguous genitalia, male Perineal hypospadias Abnormal vagina morphology Absence of secondary sex characteristics Ovarian cyst Decreased circulating cortisol level Adrenal hyperplasia Adrenal hypoplasia Female external genitalia in individual with 46,XY karyotype Congenital adrenal hypoplasia Joint laxity Macrocephaly Aggressive behavior Neonatal hypotonia Pes planus Kyphoscoliosis Autism Patent ductus arteriosus Malar flattening Hypoplasia of the corpus callosum Tremor Maternal virilization in pregnancy Abnormal sex determination Androgen insufficiency Ectopic adrenal gland Abnormality of the labia majora Hyperpigmented genitalia Female sexual dysfunction Abnormality of prenatal development or birth Increased circulating androgen level Decreased circulating androgen level Enlarged ovaries Pear-shaped nose Elevated intracellular cystine


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